Article
A new case of a severe clinical phenotype of the cat-eye syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2004
Denavit T Martin, Malan V, Grillon C, Sanlaville D, Ardalan A, Jacquemont M L, Burglen L, Taillemite J L, Portnoi M F
Abstract excerpt
A new case of severe clinical phenotype of the cat-eye syndrome: We report on a female infant with severe clinical phenotype of Cat-Eye Syndrome (CES). At birth, she had respiratory distress and marked hypotonia. Physical examination showed major craniofacial anomalies including microcephaly, bilateral total absence of the external ears, hypertelorism, bilateral ocular coloboma of iris and micrognathia. In...
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