A newborn boy is being evaluated in the nursery for respiratory distress. He was born an hour ago at 37 weeks gestation via spontaneous vaginal delivery to a primigravid mother who had scant prenatal care. Delivery was uneventful. During skin-to-skin contact, the mother noticed his face turn blue. The patient was stimulated and began crying, which improved his color. Weight, length, and head circumference are in the 25th-50th percentile. Temperature is 36.8 C (98.2 F), pulse is 150/min, and respirations are 48/min. Pulse oximetry is 97% on room air. As the crying stops, pulse oximetry decreases to 80% on room air. A 5-French catheter is unable to be passed through either naris. The ears are short and wide with no earlobes. The right eye is as shown below: Oropharyngeal examination reveals a cleft palate. The patient has a loud, harsh, holosystolic murmur best heard at the lower left sternal border. The testes are not palpable. The skin and extremities appear normal. Which of the following is the most likely diagnosis in this patient?

Question

A newborn boy is being evaluated in the nursery for respiratory distress.  He was born an hour ago at 37 weeks gestation via spontaneous vaginal delivery to a primigravid mother who had scant prenatal care.  Delivery was uneventful.  During skin-to-skin contact, the mother noticed his face turn blue.  The patient was stimulated and began crying, which improved his color.  Weight, length, and head circumference are in the 25th-50th percentile.  Temperature is 36.8 C (98.2 F), pulse is 150/min, and respirations are 48/min.  Pulse oximetry is 97% on room air.  As the crying stops, pulse oximetry decreases to 80% on room air.  A 5-French catheter is unable to be passed through either naris.  The ears are short and wide with no earlobes.  The right eye is as shown below:  Oropharyngeal examination reveals a cleft palate.  The patient has a loud, harsh, holosystolic murmur best heard at the lower left sternal border.  The testes are not palpable.  The skin and extremities appear normal.  Which of the following is the most likely diagnosis in this patient?

Quizplus · Accepted Answer

11ec25c8_d6e1_503c_bc81_a75000ae4030_MD0003_00 This patient has bilateral choanal atresia, which classically presents with cyanosis at rest or with feeding and improvement with crying. The inability to pass a catheter beyond the proximal nares is characteristic. Although choanal atresia can be an isolated finding, diagnosis should prompt consideration for a congenital anomaly syndrome due to its association with other defects. This patient also has coloboma (hole in one of the eye structures), dysplastic ears (eg, short and wide ears with no earlobes), cryptorchidism, and likely a ventricular septal defect (eg, harsh, holosystolic murmur at the lower left sternal border), which are findings concerning for CHARGE syndrome. choanal atresia CHARGE syndrome is often identified clinically in the newborn period and is characterized by the following features: Coloboma, Heart defects, Atresia choanae, Retardation of growth, and Genitourinary and Ear abnormalities. Other common features include hypotonia and cleft lip or palate (as seen in this patient). This constellation of findings is caused by mutations in CHD7, which plays a role in gene expression during fetal development. Genetic testing typically confirms the diagnosis. Initial management of infants with CHARGE syndrome includes placement of an oral airway for respiratory support in patients with choanal atresia. Screening echocardiogram and renal ultrasound are also indicated. Children with CHARGE syndrome require lifelong, multispecialty care due to delays in development, puberty, and growth. (Choice B) DiGeorge syndrome results from a chromosome 22q11.2 microdeletion and presents with heart defects, hypocalcemia, and thymic hypoplasia. Coloboma and choanal atresia are not features of DiGeorge syndrome. (Choice C) Infants with Fanconi anemia may have genital abnormalities, abnormal ears, and heart defects but also often have abnormal skin pigmentation and hypoplastic thumbs (not seen here). In addition, colobomas and choanal atresia are not seen in Fanconi anemia. (Choice D) Infants with trisomy 13 may have many features similar to CHARGE syndrome, including heart defects, colobomas, cleft lip or palate, and cryptorchidism. However, choanal atresia is not associated with trisomy 13. In addition, trisomy 13 patients have microcephaly, which is not seen here. trisomy 13 (Choice E) VACTERL (Vertebral, Anal atresia, Cardiac, Tracheoesophageal fistula, Renal, Limb) syndrome has several features in common with CHARGE, including cardiac and renal anomalies. However, coloboma and choanal atresia are not present in infants with this condition. V A C T e R L Educational objective: CHARGE syndrome (Coloboma, Heart defects, Atresia choanae, Retardation of growth/development, and Genitourinary and Ear abnormalities) is associated with defects in CHD7 and can be diagnosed clinically in the newborn period. C H A R G E References: CHARGE syndrome: a review (http://www.ncbi.nlm.nih.gov/pubmed/24548020) CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype (http://www.ncbi.nlm.nih.gov/pubmed/21378379)

A Newborn Boy Is Being Evaluated in the Nursery for Respiratory