Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 124A, Issue 3, Pages 307-312Publisher
WILEY
DOI: 10.1002/ajmg.a.20418
Keywords
Kousseff syndrome; neural-tube defect; conotruncal anomaly; 22q11.2-microdeletion; CITED2; velocardiofacial syndrome
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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 22q1 1.2 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. (C) 2003 Wiley-Liss, Inc.
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