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Article

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.

American journal of medical genetics. Part A - 15 Jul 2008

Guilherme Romain, Baumann Clarisse, Garel Catherine, Huten Yolène, Oury Jean-François, Delezoide Anne-Lise

Abstract excerpt

We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero-radial synostosis as a prominent manifestation and with the X-linked lissencephaly with ambiguous genitalia syndrome...

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Identifiers

PMID: 18553517
DOI: 10.1002/ajmg.a.32380

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