Cornelia de Lange reported a child with multiple congenital anomalies in 1933,1 and sporadic reports of children with similar abnormalities have been published in European journals since that time. Descriptions have appeared in the American pediatric literature since 1963, but brief discussions in the textbooks of Duke-Elder2 and Waardenburg et al3 constitute the only sources of information on the syndrome which are readily available to the ophthalmologist.
The clinical features of the de Lange syndrome include: (1) mental retardation, (2) growth retardation, (3) a characteristic facial appearance, (4) multiple skeletal abnormalities, and (5) a feeble, low-pitched cry. The etiology is not definitely known, although a genetic study by Opitz et al4 indicates that the disorder may be transmitted as an autosomal recessive. No consistent chromosomal abnormalities and no common prenatal teratogenic stimuli have been observed.
Report of a Case
A 10-month-old white girl (JHH 1147544) was
NICHOLSON DH, GOLDBERG MF. Ocular Abnormalities in the de Lange Syndrome. Arch Ophthalmol. 1966;76(2):214-220. doi:10.1001/archopht.1966.03850010216012