Agenesis of the corpus callosum, camptodactyly and obesity

Authors
Verloes, A Lesenfants, S
Citation
A. Verloes et S. Lesenfants, Agenesis of the corpus callosum, camptodactyly and obesity, CLIN DYSMOR, 9(2), 2000, pp. 107-109
Citations number
4
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
9
Issue
2
Year of publication
2000
Pages
107 - 109
Database
ISI
SICI code
0962-8827(200004)9:2<107:AOTCCC>2.0.ZU;2-I
Abstract
We report a 16-year-old girl with agenesis of the corpus callosum, congenit al heart disease (ventricular septal defect and abnormal venous return), 5t h digit camptodactyly and obesity, born to first cousin Italian parents. Al though this child shares features with acrocallosal syndrome and Camera-Mar ugo-Cohen syndrome, we think that this combination of anomalies allows the delineation of a new MCA/MR syndrome, possibly recessively inherited. Clin Dysmorphol 9: 107-109 (C) 2000 Lippincott Williams & Wilkins.