Craniofacial abnormalities included a long narrow
head with communicating hydrocephalus, prominent forehead, large anterior fontanelle,
midface hypoplasia, proptosis and
hypertelorism, grooved chin and small upturned nose, and mandibular hypoplasia
(micrognathia). Musculoskeletal abnormalities included hooked clavicles, 13 pairs
of ribs, large hands and feet with long, slender fingers, widened
metaphyses, and square-shaped vertebral bodies, which developed over time as a
sign of muscular hypotonia. Both patients were developmentally delayed and suffered
from gastroesophageal reflux and recurrent respiratory infections. The only
cardiac finding was a functional systolic murmur.