Explanation:

Explanation:

Prior to the implementation of hearing screen programs, it was customary to test those newborns who have known significant risk factors for hearing loss. This group includes infants whose mothers suffered from illness during pregnancy, those who had a family history of hearing loss, or those who were exposed to drugs known to affect hearing (eg aminoglycosides).
In addition, infants with the following conditions were included for hearing screening: low birth weight and/or prematurity, or oxygen deprivation or breathing difficulties at birth, high bilirubin levels, abnormal head or face structures, infections such as cytomegalovirus, syphilis, herpes or toxoplasmosis and low Apgar scores. The primary symptom of rubella virus infection is the appearance of a rash (exanthem) on the face which spreads to the trunk and limbs and usually fades after three days (that is why it is often referred to as three-day measles). It causes sensorineural deafness.

Explanation:

Clinical assessment for Genu varus or bow-leggedness is often made with the legs together by measuring the distance between the knees for bowing and the ankles for knock knee (genu valgum) deformity. A more accurate measurement would be the tibial femoral angle as seen on the standing x-ray. One must be careful that the legs are in neutral rotation when the x-ray is taken, as internal or external rotation will alter this angle.
Physiologic bow leg deformity should spontaneously correct by two years of age. No x-rays are usually necessary before then. Internal tibial torsion and external rotation contracture of the hips often accompany genu varum and tend to accentuate the deformity.

Treatment is reassurance and observation. Shoe corrections, splints and exercise programs do not produce any change different than the normal expected spontaneous correction.

Explanation:

The discovery of an abdominal mass on physical examination in the newborn period causes concern and the need for a rapid diagnosis. The incidence of an abdominal mass is 1/1000 live births. The majority of masses are of benign origin and greater than 50% are of renal origin. Examples include multicystic dysplastic kidney, posterior urethral valves and mesoblastic nephromas.

Explanation:

Explanation:

Physiologic jaundice is very common in newborns, with a total serum bilirubin concentration of less than 13 mg/dL and a normal direct serum bilirubin concentration. There should be no change in childcare or feeding of the neonate. Phenobarbital is not indicated because this patient has physiologic jaundice and no therapy is required.

Explanation:

Neonatal mortality is lowest among women who receive good prenatal care. Cigarette smoking (nicotine), maternal diabetes mellitus, maternal STD infection, and maternal hypertension all are associated with increased neonatal mortality

Explanation:

Ethanol withdrawal syndromes are not seen in infants with fetal alcohol syndrome. However, cardiac abnormalities, Small palpebral fissures, growth deficiency, and mental retardation are all manifestations of this condition.

Explanation:

Unconjugated bilirubin can be neurotoxic in the newborn and is responsible for kernicterus. Conjugated bilirubin, hemoglobin, hemosiderin, and cholesterol are not neurotoxic.

Explanation:

Explanation:

Cystic fibrosis is associated with more cases of meconium ileus than the other conditions. Meconium ileus can cause gastrointestinal obstruction soon after birth. Cigarette smoking is associated with infants that are small for gestational age, maternal diabetes with infants that are large for gestational age, fetal alcohol syndrome with abnormal facies and microcephaly, rubella with heart anomalies, cataract formation, and deafness.

Explanation:

Babies born in March, April, or May tend to be larger than those born in June, July, or August. Statements (A), (B), (D), and (E) are all correct. The tendency of babies of diabetic mothers to be large is often due to edema. The baby´s birth weight tends to rise with the mother´s age if the mother is over 24 years old. The mean birth weight tends to be higher in the upper socioeconomic classes than in the lower classes, and the greater the weight gain during pregnancy, the bigger the fetus is likely to be.

Explanation:

Embryonic tissue is most susceptible to teratogens during the third through ninth weeks of pregnancy. This is when organogenesis, as well as most major congenital anomalies, occurs. Because brain development occurs throughout pregnancy, how-ever, it is wisest for a pregnant woman to avoid alcohol for all 9 months of gestation. The first 2 weeks of pregnancy are not generally associated with teratogenicity, unless so many of the cells of the conceptus are irreversibly damaged that death results. Otherwise, the abundance of undifferentiated cells present can compensate for the damage. The ninth through twelfth weeks are associated with minor congenital anomalies, including those of the eyes, palate, teeth, and ears. The twelfth through sixteenth weeks and sixteenth through twentieth weeks are associated with minor congenital anomalies, including those of the eyes, teeth, ears, and external genitalia. Minor CNS anomalies may occur during the twentieth week.

Explanation:

<1,500 g implies a very low birth weight infant, While this weight accounts for <1% of all total births, these infants make up approximately 50% of all neonatal deaths. Very low birth weight infants must be differentiated between low birth weight infants (<2,500 g) and normal infants (>2,500 g).

Explanation:

Biliary atresia is the most common congenital biliary anomaly. A neonate with this abnormality would not be expected to have signs of biliary obstruction. Choanal atresia does not cause obstructive jaundice. Hepatitis and cytomegalovirus would not be expected to produce obstructive jaundice in this setting. Cholecystitis would be very unusual in an infant.

Explanation:

A normal heart rate should range from 120-160 beats/min.

Explanation:

Erb´s palsy is the result of an injury to the fifth and sixth cervical nerves, usually caused by traction during delivery. The other conditions can all be due to injuries during delivery but do not affect these two cervical nerves.

Explanation:

Newborn infants, with their extremely high heart rates, must have a heart rate greater than 100 to indicate an Apgar score of 2. Apgar scores of 1 indicate heart rates less than 100 beats/minute, and of 0 if there is no heart rate at all.

Explanation:

Prematurity occurs when gestation is less than 34 weeks or the birth weight is under 2,500 g.

Explanation:

The paramesonephric duct gives rise to the upper part of the female vagina. The mesonephric duct does not give rise to any significant anatomic structures in the female. The urogenital sinus gives rise to the female urinary bladder, urethra, urethral glands, and vestibular glands. The genital tubercle gives rise to the vestibule and the clitoris in the female, and the urogenital folds give rise to the labia minora in the female.

Explanation:

Normal respiratory rate should range from 30-60 breaths per minute.

Explanation:

Newborn infants, with their extremely high heart rates, must have a heart rate greater than 100 to indicate an Apgar score of 2. Apgar scores of 1 indicate heart rates less than 100 beats/minute and of 0 if there is no heart rate at all.

Explanation:

This patient presents with symptoms consistent with neonatal pneumonia due to Chlamydia trachomatis. This agent is transmitted from the mother´s vaginal secretions to the neonate at birth. The conjunctivitis precedes the pneumonitis. Tachypnea, hypoxemia, crackles, wheezing, and eosinophilia are evident. Patients with mild to moderate illness with Chlamydia pneumonia may present with the “staccato cough” (inspiration between each single cough). Chest X-ray may show scattered infiltrates and hyperinflation of the lungs. Ascaris lumbricoides produces visceral larva migrans and can cause pneumonia and eosinophilia. However, this is caused by ingestion of Ascaris eggs passed by dogs and cats. Mycoplasma pneumoniae is the most common etiologic agent of apical pneumonia in young people, but not in neonates. Pneumocystis jiroveci causes pneumonia in patients with acquired immune deficiency syndrome and other immunocompromised patients. Streptococcus pneumoniae is the most common cause of typical pneumonia in adults, but would not be a common agent of pneumonia in a neonate.

Explanation:

The most common cardiac abnormality in infants of diabetic mothers is asymmetric septal hypertrophy. With this abnormality, the septum along the left ventricular out flow tract (not the right side; hence, asymmetric) is hypertrophied, thus decreasing systemic circulation. With significant hypertrophy, there would be decreased perfusion as evidenced by weak pulses, decreased blood pressure, and prolonged capillary refill. Significant obstruction may produce tissue hypoxia and lactic acidosis. The etiology is the same as the etiology for other abnormalities in this disorder; fetal hyperinsulinemia as a response to increased maternal glucose. Infants of diabetic mothers also have a higher incidence of retained lung fluid, as is the case in this question (tachypnea with perihilar edema and fluid in the fissures). For various reasons, these infants may also have surfactant deficiency at or near term, and therefore present with respiratory distress syndrome. That does not appear to be the case in this question because the baby has a significant improvement in oxygenation just with the addition of 50% oxygen by hood.
Most of the abnormalities found in infants of diabetic mothers regress over time. The higher the in-utero glucose environment, the worse and longer-lasting are the fetal effects. The most important metabolic problem is hypoglycemia. Euglycemia must be achieved by any combination of oral feedings, continuous nasogastric feedings, and central intravenous administration of high glucose concentrations. The treatment of the asymmetric septal hypertrophy is mainly supportive, as it will improve in time. As with idiopathic hypertrophic subaortic stenosis, inotropic agents will worsen the obstruction and are contraindicated. If a medication is required, a beta blocker would be used.
There is no clinical evidence of an Atrial septal defect. Infants of diabetic mothers have a higher incidence of congenital heart defects. The most common lesions are ventricular septal defects, Atrial septal defects, transposition of the great vessels, truncus arteriosus, double-outlet right ventricle, and coarctation of the aorta.
Newborns with hypoplastic left heart go into shock with the closure of the ductus arteriosus and appear gray-blue. They need immediate intensive support with colloids, inotropes, drugs to increase systemic vascular resistance, and ventilation. The presentation here is not consistent with this.
Transposition of the great arteries presents as cyanotic infant shortly after birth. The baby worsens with closure of the ductus arteriosus. The baby in this question is not cyanotic and the chest radiograph is not characteristic for transposition (egg-on-a-string appearance of heart and mediastinum).
There is no evidence of ventricular septal defect (VSD). We would not expect to see significant hemodynamic effects of a VSD immediately after birth due to the still-high pulmonary vascular resistance. As the resistance and hence pulmonary artery pressure decrease slowly after birth, there would be an increasing left-to-right shunt across the VSD, and the findings would then become apparent.

Explanation:

Perinatal asphyxia would explain the fetal heart tracings. The poor tone and respiratory effort indicate the same. Seizures would be expected several hours after moderate hypoxia. Although the most common manifestation of neonatal strokes are seizures, the scenario does not elaborate significant risk factors. Moreover, stroke accounts for about 10% of seizures in term neonates. Respiratory distress after a term pregnancy is unlikely given adequate surfactant. Subarachnoid hemorrhage is associated with no symptoms or with irritability that resolves over days. Infants with werdnig-hoffman syndrome have hypotonia but no encephalopathy.

Explanation:

Explanation:

The most common clinical features of fetal alcohol syndrome (FAS) include microcephaly, short palpebral fissures, midfacial hypoplasia, and possible cardiac defects.
Intrauterine growth acceleration is not a feature of this syndrome. Large hands and feet and macrocephaly can be seen in cerebral gigantism, also called Soto syndrome, but is not commonly associated with FAS.
Neurofibromas are seen in neurofibromatosis. They are not a part of fetal alcohol syndrome.

Explanation:

Explanation:

Explanation:

The question is testing knowledge with respect to neonatal resuscitation, and specifically with respect to the presence of meconium in the amniotic fluid. After delivery, the first steps are always to place the baby on the radiant warmer, and then to dry and stimulate. In most cases, this will be enough to activate a depressed baby. The next step is to open the airway and provide positive pressure ventilation (bag-mask) with oxygen. The one exception to this (other than patients who obviously need immediate intubation) is the baby who is depressed with thick, particulate meconium. In that case, the infant is immediately intubated with the appropriately sized endotracheal tube, and meconium is suctioned from the trachea. Although many babies aspirate meconium in utero, this action will prevent any further aspiration of meconium present in the upper airway.
The question, however, states that the infant is born with thin meconium and is already crying. These babies do not require intubation because they are unlikely to have severe meconium aspiration. In addition, it has been found that attempting to intubate an active, crying baby is likely to result in trauma and accomplishes nothing.
Therefore, the next step in this question is to dry and stimulate, as usual with neonatal resuscitation, the standard CPR skills of airway, breathing, and circulation (the ABCs of resuscitation) are applied.
After the baby is dried and stimulated, the nasopharynx is suctioned and the infant is positioned on the table with the head in the “sniffing´ position to open the airway. The next step is to evaluate breathing. If the baby has ineffective or no respiration, then bag and mask ventilation is begun and the heart rate is checked at the base of the umbilical cord. If the heart rate is less than 100, ventilation is continued until the baby is breathing spontaneously and the heart rate remains greater than 100. If the heart rate is less than 60, chest compressions are begun, possibly followed – by medications, depending on the response to ventilation and chest compressions. During ventilation, oxygen is administered. At times, the baby may be active with an adequate respiratory effort and heart rate but remain blue. In this case, blow-by-oxygen is administered. This would also be done if the baby improves after bag mask ventilation. The ventilation would be discontinued and blow-by oxygen given until the baby´s color has improved.

Explanation:

Explanation:

Hemorrhagic disease of the newborn is a bleeding problem that occurs in a newborn during the first few days of life. Babies are normally born. With low levels of vitamin K, an essential factor in blood clotting. A. deficiency in vitamin K is the main cause of hemorrhagic disease of the newborn.
Babies at risk for developing hemorrhagic disease of the newborn include the following: babies who do not receive preventative vitamin K in an injection at birth, exclusively breastfed babies (breast milk contains less vitamin K than cow´s milk formula) In addition to a complete medical history and physical examination, a diagnosis is based on the signs of bleeding and by laboratory tests for blood clotting times.
If bleeding occurs, vitamin K is given. Blood transfusions may also be needed if bleeding is severe.

Explanation:

Small for gestational age (SGA) is a term used to describe a baby who is smaller than the usual amount for the number of weeks of pregnancy.
SGA babies usually have birth weights below the 10th percentile for babies of the same gestational age. This means that they are smaller than 90 percent of all other babies of the same gestational age.
SGA babies may appear physically and neurglogically mature but are smaller than other babies of the same gestational age. SGA babies may be proportionately small (equally small all over) or they may be of normal length and size but have lower weight and body mass. SGA babies may be premature (born before 37 weeks of pregnancy), full term (37 to 41 weeks), or post term (after 42 weeks of pregnancy).

Explanation:

Physiological jaundice occurs in approximately 50% of newborns. Its onset is on 2 to 3 days of age, with a peak at day 4 to 5, then improvement with disappearance usually without treatment by 1 to 2 weeks of age. It almost never causes kernicterus.

Explanation:

To recognize abnormal growth, one needs to understand normal growth. The average birth weight for a term infant is 3.3 kg. Weight drops as much as 10% in the first few days of life, probably as a result of loss of excess fluid; however, birth weight should be regained within 2 weeks after birth. Breastfed infants tend to regain birth weight a little later than bottle-fed infants. In breastfed infants and formula-fed infants, the frequency of feeds, number of wet diapers and stools each day, and a history of sequential weights allow the physician the ability to gauge if the child is receiving adequate amounts of fluid and calories and is gaining weight appropriately.

Explanation:

Deafness is the only one of these choices that is not part of the fetal alcohol syndrome

Explanation:

Transient unconjugated hyperbilirubinemia is common in infants between the second and fifth postnatal days. During gestation, the placenta clears bilirubin from the fetus. Following birth, the hepatic glucuronosyltransferase enzyme is too “immature” to conjugate all the bilirubin. This enzyme normally increases during the first two weeks of life in healthy full-term infants. In premature infants, this enzyme can be induced by treatment with phenobarbital. A hemolytic process, such as erythroblastosis, results in an accentuation of the physiologic jaundice. In addition to the immaturity of the hepatic glucuronosyltransferase enzyme, there may be a concomitant defect in the excretion of conjugated bilirubin. Jaundice present at birth is not physiologic. The etiology must be evaluated.

Explanation:

A reduction in pulmonary surfactant has been associated with hyaline membrane disease of prematurity. The other compounds are not known to be involved in this condition.

Explanation:

A reduction in pulmonary surfactant has been associated with hyaline membrane disease of prematurity. The other compounds are not known to be involved in this condition.

Explanation:

Hypertrophic pyloric stenosis classically presents as projectile vomiting that is nonbilious. It usually occurs in males at the age of five weeks. A mass can often be felt in the right upper quadrant. The other conditions are less likely.

Explanation:

Explanation:

Explanation:

Transient tachypnea of the newborn (TTN) is respiratory distress caused by delayed resorption of fetal lung fluid. TTN affects premature infants, term infants delivered by cesarean section, and infants born with respiratory depression, all of whom have delayed clearance of fetal lung fluid. Maternal diabetes and asthma are also risk factors, for unknown reasons, and the disorder can occur in preterm infants with respiratory distress syndrome (RDS) and in term infants born through meconium-stained amniotic fluid.

Rapid respirations, grunting, and retractions begin soon after delivery, and cyanosis may develop. Chest x-ray shows hyperinflated lungs with streaky perihilar markings, giving the appearance of a shaggy heart border while the periphery of the lungs is clear. Fluid is often seen in the lung fissures.

Recovery usually occurs within 2 to 3 days. Treatment is supportive and involves giving O2 by hood and monitoring ABGs or pulse oximetry. Rarely, extremely premature infants and/or those with neurologic depression at birth require continuous positive airway pressure and occasionally even mechanical ventilation.

Explanation:

Explanation:

Measuring arterial blood pressures in the upper and lower extremities is the appropriate next step when evaluating an infant for congenital heart disease. This is especially helpful when considering coarctation of the aorta, as such infants may demonstrate a difference in the pulsations and blood pressures of the upper and lower extremities. Abdominal ultrasonography would be done to rule out renal disease. Likewise, although both a chest x-ray film and an electrocardiograph should be included in the evaluation of this patient, they are not the most appropriate next step. Always do the least invasive study on your patient first.

Explanation:

Explanation:

Explanation:

Ganciclovir is the indicated agent of use in CMV retinitis. Acyclovir is used for herpes infections, while agents such as ribavirin and amantadine are used for respiratory syncyctial virus and influenza A virus infections, respectively. Idoxuridine is mainly used topically to treat herpes simplex keratitis.

Explanation:

Hyaline membrane disease is due to immaturity of the lungs and occurs in premature infants. It is not a manifestation of intrauterine growth retardation, if the infant is born on time. It is not related to maternal age and maternal diabetes.
It is commoner with males.

Explanation:

Explanation:

The neonate has albinism, which is an autosomal recessive disorder of tyrosine metabolism that leads to an inability to produce melanin. The result is pale skin white hair and red eyes. The melanin producing cells are still present in the body, but cannot make pigment. The lack of melanin strongly predisposes for the development of skin cancer, which is usually a squamous cell carcinoma, although basal cell carcinomas are also increased. While these tumors are not usually considered very serious by medical personnel, in albino individuals, they can be so numerous as to be very problematic in treatment. Consequently, the family and then the affected individual, when older, should be strongly encouraged to be very consistent in the use of protective clothing and high SPF sun screens. Basal cell carcinoma also has increased incidence in albinism, but is much less common that squamous cell carcinoma. Keratoacanthoma, a squamous cell carcinoma like lesion that heals spontaneously, does not have an increased incidence in albinism. Malignant melanoma, more specifically the “amelanotic” form, can occur, but it is unclear whether the incidence is significantly increased or not. Paget disease refers to the presence of individual adenocarcinoma cells in the skin (often overlying a breast cancer), and does not have an increased incidence in albinism.

Explanation:

Erythroblastosis fetalis, or hemolytic anemia of the newborn, is usually due to Rh incompatibility between mother and infant. It is not associated with neonatal infection with Escherichia coli, while prolonged rupture of the membranes, third trimester maternal urinary tract infection, spina bifida, and multiple births all are implicated in infection with this organism.

Explanation:

The infant probably has esophageal atresia, which is typically caused by posterior deviation of the tracheoesophageal septum. Attempts at feeding cause fluid to spill into the trachea, and secondarily cause aspiration pneumonia. Emergent surgical correction is usually required. Bronchogenic cysts are centrally located cysts that are often asymptomatic and may be associated with cysts of other organs. Congenital pulmonary cysts are often multiple and located in the lung periphery without connection to the bronchi; they are vulnerable to infection and rupture complicated by pneumothorax and/or hemoptysis. Pulmonary immaturity produces progressive difficulty in breathing beginning in the first few hours of life. Pulmonary sequestration represents extrapulmonary lung tissue supplied by systemic blood vessels rather than by pulmonary arteries.

Explanation:

Women with diabetes are more likely to give birth to large-for-date babies. All of the other conditions are causes of low-birth-weight in neonates.

Explanation:

The mesonephric duct gives rise to the appendix of the epididymidis and the ejaculatory duct. The mesonephric tubules give rise to the ductus epididymidis, ductus deferens, ureter, pelvis, and calyces in the male. The paramesonephric duct gives rise to the prostatic utricle and the appendix of the testis. The urogenital sinus gives rise to the urinary bladder and urethra, as well as the prostate gland and bulbourethral glands. The urogenital folds give rise to the ventral side of the penis and the penile urethra.

Explanation:

The urogenital folds give rise to the labia minora in the female. The mesonephic duct does not give rise to any significant anatomic structures in the female. The paramesonephric duct gives rise to the upper part of the female vagina. The urogenital sinus gives rise to the female urinary bladder, urethra, urethral glands, and vestibular glands. The genital tubercle gives rise to the vestibule and the clitoris in the female.

Explanation:

Explanation:

Explanation:

Explanation:

Explanation:

IgM immunoglobulin directed against Toxoplasma would provide evidence of infection in the newborn baby. Since IgG antibodies are actively transported across the placenta into the fetus, it is not possible to determine the origin of IgG antibodies in a neonate. The presence of an elevated IgG titer in a neonate is simply a reflection of the response of the mother to the agent. IgA is the antibody that is produced in response to mucosal infections. It cannot cross the placenta. The baby´s immune system is still not well developed at birth and cannot produce IgA immunoglobulin. In adults or older children, IgA is exists in serum in a monomeric form but is present in seromucous secretions as a dimer. IgE is the antibody that is produced in response to an allergen. It cannot cross the placenta, and is not present in the baby at birth or for some time after birth. IgG 1 and IgG4 immunoglobulins might be present in the baby, but would not indicate infection in the infant. The presence of these isotypes would indicate that the mother was infected with the organism and produced antibody that was transported across the placenta in utero. IgG is the only immunoglobulin that can cross the placenta, providing protection to the baby during the first few months of life.

Explanation:

The nevus sebaceus is a small, well- demarcated, typically oval plaque that is yellow-orange and slightly raised. It is seen in infants on the head or neck. On the head, it is surrounded by an area of alopecia. All elements of skin are found in the lesion, but predominantly sebaceous glands. By adolescence, the lesion becomes verrucous and contains large, rubbery nodules. The nevus is formed from primary epithelial germ cells, which can differentiate into epithelial tumors. In adulthood, the nevus is commonly complicated by a secondary malignancy, especially basal cell carcinoma. If the diagnosis is confirmed by biopsy, the lesion can be completely excised before adolescence.
Congenital melanocytic nevi vary in size from small to giant. Nevus cells may be present in the lower dermis to the subcutaneous fat clinically; it may be difficult to distinguish these cells from other pigmented lesions. The big clue is to recognize a lesion present from birth. Small nevi may be present on the trunk or proximal extremities, and may have any type of appearance and color (brown, black, or blue). Malignant potential is small and removal is not routinely warranted. On the other hand, giant congenital pigmented nevi occur on the posterior trunk, head, or extremities; patients with such lesions are predisposed to the development of malignant melanoma.
Most will arise by 5 years of age. For these, wide excision with skin grafting is recommended, but the nevus may still be diffuse within the subcutaneous tissue.
A halo nevus presents on the back, and its development may be coincident with puberty or pregnancy. The central nevus disappears over several months, leaving the surrounding hypopigmented halo, which may remain that way. Biopsy and excision are warranted only if there is concern about the appearance of the central nevus. Children and young adults with vitiligo are predisposed to halo nevi.
Malignant melanoma represents a small number of childhood malignancies but is the most common malignancy in young adults in their mid-twenties. It occurs most often on the head and trunk in males and on the extremities in females. The main risk factors are family history, fair complexion, sun exposure, and immunosuppression. Mortality is related to tumor thickness and underlying invasion. Prevention and early detection are important because of the lack of effective therapy. Detection means prompt response to any nevus with respect to change in size, shape, color, inflammation, bleeding, crusting, or sensation.
Neurofibromas are the pathologic lesions of neurofibromatosis. These lesions are seen on the skin, along peripheral nerves, along blood vessels, and within organs. They appear most often during adolescence or pregnancy and are small and rubber with a slight purplish discoloration of the overlying skin. The plexiform neurofibroma is evident from birth and results from thickening of nerve trunks in the orbital and temporal areas of the face. They may produce bone deformity and overgrowth.
The Nevus of Ota is more common in females, Asians, and blacks. It consists of a permanent patch of blue, black, and brown macules that may enlarge and darken with time. The nevus is present most com only in the supraclavicular, scapular, and deltoid regions. It is speckled in appearance and may resemble a Mongolian spot. Malignant degeneration is very rare. It is treated with cosmetic or laser therapy.

Explanation:

Although the physical finding of the imperforate anus has given you a diagnosis, the presentation with drooling and choking is classic for esophageal atresia, which is often an associated anomaly (part of the “VACTERL” constellation). Infact the abundance of gas in the gastrointestinal tract is also typical, as the babies get it by way of the distal tracheoesophageal fistula that accompanies the majority of esophageal atresias. The nasogastric tube coiled on itself would confirm the suspected diagnosis, which would significantly alter the surgical plans.
Barium injected through the anal dimple would probably end up in the tissues, where it would be very irritating. In the absence of fistula, imperforate anus is not likely to be low. The study would not help define the imperforate anus and would do nothing to diagnose the esophageal problem.
Barium swallow would demonstrate the esophageal atresia, but at the cost of ending up in the tracheobronchial tree as the baby vomits and aspirates it Barium is very irritating in that location. If contrast material is needed to demonstrate the atresia, water soluble contrast materiel would be preferred, and it would have to be promptly sucked out before it also ended up in the lungs.
Decompressing the gastrointestinal tract would not be possible by nasogastric suction if the esophagus indeed is atretic. If it is patent the colostomy can be done without prior decompression. If there is a tracheoesophageal fistula, and for some reason it cannot be promptly repaired, a gastrostomy would be required to protect the lungs from aspiration of gastric acid.
Attempts to reconnect the anal canal when all evidence points to a high blind end, would be pointless and would do nothing to diagnose the other potentially lethal anomaly affecting the esophagus and tracheobronchial tree.

Explanation:

Explanation:

This patient most likely has choanal atresia, which is an obliteration or blockage of the posterior nasal aperture. Since most newborns are obligate nose-breathers, spells of crying force mouth-breathing, improving the ventilation. If unilateral, the atresia may not cause symptoms. The best initial step to evaluate the condition is to insert a catheter through the nose. If the catheter cannot be passed from nose to oropharynx, the diagnosis of choanal atresia should be suspected but not yet confirmed. The diagnosis is confirmed by CT with intranasal contrast that shows narrowing of the posterior nasal cavity at the level of the pterygoid plate. Intubation via the oropharynx will provide immediate relief for the patient and surgery should then be performed for definitive correction. Choanal atresia may be a part of the CHARGE association, which includes:

• Colobomas
• Heart defects
• Choanal atresia
• Retardation (growth and for mental)
• Genitourinary abnormalities
• Ear anomalies

The CHARGE association, however, is excluded by the absence of any findings on thorough physical examination of all systems.
Rhinography is a procedure that involves the administration of radiopaque dye into the nasal cavity, followed by x-ray. It may be used to detect abnormalities in the nasal cavity and nasopharynx, so it could be used in the evaluation of choanal atresia, but it does not confirm the diagnosis. CT with intranasal contrast confirms the diagnosis.
An arterial blood gas would indicate hypoxemia and may prompt the need for intubation, but it would not confirm the diagnosis of choanal atresia.
An electrocardiogram would be of no value since this is not cardiac issue. If cardiac examination had revealed any abnormalities, echo would be indicated as a workup to exclude the heart defects of the CHARGE association. The present case is one of isolated choanal atresia, which is confirmed by CT with intranasal contrast.

Explanation:

Explanation:

DiGeorge syndrome is characterized by:

• Dysmorphic facial features: low-set ears, eyes wide apart, palatal anomalies, widened area below nasal bridge, short philtrum, bulbous nose tip, high-arched or cleft palate, and micrognathia.
• Evidence of a significant cardiac lesion (abnormal heart sounds, significant murmur, and right-sided aortic arch): conotruncal anomalies.
• No hypoplastic thymic shadow seen on chest-x-ray.
• Hypocalcemia (resulting from parathyroid hypoplasia): may present, with muscle spasms and generalized seizures

DiGeorge syndrome results from a developmental failure of the third and fourth pharyngeal pouches, which gives rise to congenital absence or anomalies of the parathyroid, thymus, lower face, and cardiac structures. Immune deficiency results from failure of T lymphocytes to mature in the thymus. Thus, fungal and viral organisms, which are normally controlled by T cell-mediated mechanisms, become frequent causes of opportunistic infections. The underlying gene defect is related to 22q11 deletion, which results in two partially overlapping) conditions, i.e., DiGeorge syndrome and velocardiofacial syndrome.
These conditions are collectively referred to as chromosome 22q11 deletion syndrome. Thus, DiGeorge syndrome is best confirmed with polymerase chain reaction (PCR)-based genotyping.
DiGeorge syndrome is also known as CATCH-22 syndrome which includes a wide spectrum of anomalies with these 22q11.2 deletions; CATCH stands for cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia. The common conotruncal lesions associated with DiGeorge (and these other microdeletion syndromes) are transposition of the great arteries, truncus arteriosus, and right-sided aortic arch. In addition, atrial and ventricular septal defects are common findings.
If serum calcium levels were obtained, low total and ionized calcium would be seen; however, while this confirms the diagnosis of DiGeorge syndrome, it does not show the underlying defect. To do this, a PCR-based genotype using microsatellite DNA marker: located within the deleted region is required. The DiGeorge chromosomal region is 22qll.2. There are microdeletions of specific DNA sequences within this region. Therefore, a simple karyotype would not show the abnormality.
The definitive cardiac diagnosis is made by echocardiography. Again, this will not demonstrate the underlying cause of the syndrome but will show the large truncus overlying a VSD and any associated anomalies. Color Doppler studies may be used to evaluate any truncal regurgitation.
Cardiac catheterization would not be required for the diagnosis. It would be used to measure shunt size for presurgical evaluation, to measure pulmonary vascular resistance, or to follow up alter surgical repair. It would not demonstrate the underlying etiology of the syndrome.

Explanation:

Explanation:

Explanation:

The lesion is a port-wine stain, which is a purple, flat telanglectasia (vascular ectasia) that tends to occur on the head and to grow with the body. These lesions, particularly when they lie in the distribution of the trigeminal nerve, maybe associated with angiomatous masses of the nearby leptomeninges as part of Sturge-Weber syndrome. Other features of Sturge Weber include mental retardation, seizures, and hemiplegia. Buerger disease is a vasculitis that especially affects young men who are heavy smokers. Milroy disease is a congenital lymphatic malformation. Osler-Weber-Rendu disease is associated with multiple telangiectasias, but they are usually small, rather than large. Von Hippel-Lindau disease is associated with cavernous hemangiomas, rather than a port-wine stain.