Kousseff syndrome: a causally heterogeneous disorder.

Autor: Maclean K; Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia., Field MJ, Colley AS, Mowat DR, Sparrow DB, Dunwoodie SL, Kirk EP
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2004 Jan 30; Vol. 124A (3), pp. 307-12.
DOI: 10.1002/ajmg.a.20418
Abstrakt: 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.
(Copyright 2003 Wiley-Liss, Inc.)
Databáze: MEDLINE
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