We report on a boy with clinical and molecular diagnosis of Cornelia de Lange syndrome (CdLS). Besides the CdLS typical features, he shows split hand and split feet. To the best of our knowledge, only one other patient with similar finding has been reported in CdLS patients.

A new report of Cornelia de Lange syndrome associated with split hand and feet / C. Barboni, A. Cereda, M. Mariani, C. Gervasini, P. Ajmone, A. Biondi, A. Selicorni. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 158A:11(2012 Nov), pp. 2953-2955. [10.1002/ajmg.a.35623]

A new report of Cornelia de Lange syndrome associated with split hand and feet

C. Gervasini;
2012-11

Abstract

We report on a boy with clinical and molecular diagnosis of Cornelia de Lange syndrome (CdLS). Besides the CdLS typical features, he shows split hand and split feet. To the best of our knowledge, only one other patient with similar finding has been reported in CdLS patients.
Cornelia de Lange syndrome; Ectrodactyly; NIPBL; P63; Split foot; Split hand
Settore MED/03 - Genetica Medica
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/211217
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