A 6-month-old boy with dysmorphic facial features, ear anomalies, and hypospadias brought for evaluation of elevated temperature and generalized seizure. Infant born at term to a 37-year-old mother via uncomplicated cesarean delivery. In the nursery, progressive abdominal distention and bilious vomiting developed. Barium enema revealed findings consistent with Hirschsprung disease. Infant underwent corrective surgery with colostomy and subsequent colostomy reversal. A moderate ventricular septal defect was detected during his neonatal course and confirmed by echocardiogram. CT scan of the head revealed agenesis of the corpus callosum.
Square-shaped face, a prominent but narrow chin, deep-set but large eyes, hypertelorism, broad nasal bridge with rounded nasal tip, open mouth with full lower lip, posteriorly rotated ears, and large uplifted earlobes with a central depression. Infant's weight and height at the 25th percentile; head circumference at the 50th percentile. Large horizontal scar from surgery on his abdomen, and a harsh grade 3/6 systolic ejection murmur over left sternal area. Vital signs normal.
WHAT'S YOUR DIAGNOSIS?
Answer on Next Page
1. Mowat DR, Croaker GD, Cass DT, et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet. 1998;35:617-623.
2. Cerruti Mainardi P, Pastore G, Zweier C, Rauch A. Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. J Med Genet. 2004;41:e16.
3. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007;2:42.
4. Dastot-Le Moal F, Wilson M, Mowat D, et al. ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat. 2007;28:313-321.
5. Adam MP, Schelley S, Gallagher R, et al. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006;140:2730-2741.