Craniofaciofrontodigital Syndrome

Cantu et al. (1982) reported 4 unrelated girls with an apparently identical syndrome consisting of mild mental retardation, short stature, macrocranium, prominent forehead, hypertelorism, exophthalmos, cardiac anomalies, cutis laxa, wrinkled palms and soles, joint hyperextensibility, wide ribs, and small vertebral bodies. The cases were all sporadic. The parents were nonconsanguineous. The father's age in each case was advanced: 45, 55, 46, and 51. The authors suggested that these patients were the result of de novo autosomal dominant mutation. (Possibly X-linked dominant mutation is equally plausible.)