Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney <i>etc.</i>).

Aniridia

Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.

Total: 3

(per page)

PMID (PMCID)
12605058	FEMALE
	Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
	Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ. Cornea. 2003;22(2):178-80.
	Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
12605058	FEMALE
	Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
	Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ. Cornea. 2003;22(2):178-80.
	Aniridia and congenital glaucoma were not previously reported with Brachmann-de Lange syndrome.
12605058	FEMALE
	Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings.
	Lee WB, Brandt JD, Mannis MJ, Huang CQ, Rabin GJ. Cornea. 2003;22(2):178-80.
	To review the ocular surface and anterior segment findings in Brachmann-de Lange syndrome and describe a new case involving aniridia and congenital glaucoma.