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Ann Genet. 1987;30(2):126-8.

Terminal deletion 1q43 in a newborn with hydrocephalus.

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  • 1Disciplina de Genética, Escola Paulista de Medicina, Sao Paulo, Brazil.

Abstract

A male newborn presented the main craniofacial features of the 1q terminal syndrome: prominent metopic sutures, flat nose bridge, wide short nose with anteverted nares, epicantus, telecanthus, long philtrum, thin upper lip with a well defined cupid bow, downturned corners of the mouth, retrognathia. The child also had an aqueductal obstructive hydrocephalus.

PMID:
3499845
[PubMed - indexed for MEDLINE]
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