Denouement and Discussion
Major manifestations include a characteristic facial appearance consisting of narrow, beaked nose, high-arched palate, ocular hypertelorism, antimongoloid slant, micrognathia, and prominent forehead; mental retardation, short stature, microcephaly, and broad terminal phalanges of the thumbs and big toes.Other manifestations may include feeding difficulties in infancy, recurrent infections, prominent nasal septum, small mouth, abnormally shaped and positioned ears, bushy eyebrows, epicanthal folds, squint, hirsutism, stiff gait, hypotonia, and cryptorchidism. Skeletal findings may include angulation of the thumbs or toes, abnormally shaped proximal phalanx, duplication of the proximal phalanx, clinodactyly, overlapping of the toes, broad terminal phalanges of other digits, and vertebral and sternal anomalies. Other congenital defects may be present, but are less frequently found.
The exact mode of inheritance is unknown. There are rare reports of cases of siblings with the syndrome.
Although the majority of the patients have an intelligence quotient
Gellis SS, Feingold M. Picture of the Month. Am J Dis Child. 1971;121(4):327-328. doi:10.1001/archpedi.1971.02100150101012