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

Chiara Barboni; Anna Cereda; Milena Mariani; Cristina Gervasini; Paola Ajmone; Andrea Biondi; Angelo Selicorni

doi:10.1002/ajmg.a.35623

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

Am J Med Genet A. 2012 Nov;158A(11):2953-5. doi: 10.1002/ajmg.a.35623. Epub 2012 Sep 18.

Authors

Chiara Barboni¹, Anna Cereda, Milena Mariani, Cristina Gervasini, Paola Ajmone, Andrea Biondi, Angelo Selicorni

Affiliation

¹ Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM, AO S Gerardo, Monza, Italy.

PMID: 22991273
DOI: 10.1002/ajmg.a.35623

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.

Publication types

Case Reports

MeSH terms

Cell Cycle Proteins
Child, Preschool
De Lange Syndrome / complications*
De Lange Syndrome / diagnosis*
De Lange Syndrome / genetics
Foot Deformities, Congenital / complications*
Frameshift Mutation
Hand Deformities, Congenital / complications*
Humans
Male
Proteins / genetics

Substances

Cell Cycle Proteins
NIPBL protein, human
Proteins