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Kousseff syndrome: A causally heterogeneous disorder
Author(s) -
Maclean K.,
Field M.J.,
Colley A.S.,
Mowat D.R.,
Sparrow D.B.,
Dunwoodie S.L.,
Kirk E.P.E.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20418
Subject(s) - microcephaly , corpus callosum , microdeletion syndrome , corpus callosum agenesis , hydrocephalus , agenesis of the corpus callosum , chromosome , tetralogy of fallot , cerebellar hypoplasia (non human) , intellectual disability , genetics , pediatrics , medicine , biology , anatomy , pathology , heart disease , surgery , cerebellum , gene
The existence of Kousseff syndrome as a distinct entity has been thrown into doubt by a recent study conducted on the family originally reported by Kousseff. In all cases where chromosome 22q11.2 FISH testing has been undertaken, including the original sibship, a chromosome 22q11.2‐microdeletion has been identified. We report two cases of sacral myelomeningocele associated with a conotruncal cardiac anomaly or “Kousseff syndrome.” The first case, a 4‐year‐old girl, had a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum and mild–moderate developmental delay. Chromosome 22q11.2 FISH was normal and the facial phenotype was not that of velocardiofacial syndrome. Sequencing of the entire coding region of CITED2 did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2‐microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder. © 2003 Wiley‐Liss, Inc.