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Acro‐spondylo‐pubic dysostosis associated with cataracts, microcephaly, and normal intelligence
Author(s) -
ChaconCamacho Oscar F.,
VillegasRuiz Vanessa,
BuentelloVolante Beatriz,
PiñaAguilar Raul E.,
PeláezGonzález Hugo,
Ramírez Magdalena,
GonzálezRodríguez Johanna,
Zenteno Juan Carlos
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36851
Subject(s) - medicine , microcephaly , camptodactyly , anatomy , shoulders , syndactyly , surgery , pediatrics
We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple‐like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown. © 2014 Wiley Periodicals, Inc.