A 2-MONTH-OLD INFANT was referred for evaluation of poor weight gain, a weak suck, and hypotonia. The infant was the product of a full-term pregnancy during which the mother received no prenatal care, and was delivered by cesarean section because of a breech presentation. The birth weight was 3300 g. The parents were second cousins and had had a previous stillborn infant with facial dysmorphogenesis.
On physical examination the infant was alert but extremely hypotonic. Dysmorphic features included a high forehead, flat, broad nasal bridge, micrognathia, and a high arched palate (Figure 1). The sucking response was poor. The fontanels were large and the liver was palpable 3 cm below the right costal margin (Figure 2). The left testis was cryptorchid.
Dana JR, Tunnessen WW. Picture of the Month. Arch Pediatr Adolesc Med. 1999;153(10):1105-1106. doi:10.1001/archpedi.153.10.1105