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Article

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.

American journal of medical genetics. Part A - 1 Feb 2015

Chacon-Camacho Oscar F, Villegas-Ruiz Vanessa, Buentello-Volante Beatriz, Piña-Aguilar Raul E, Peláez-González Hugo, Ramírez Magdalena, González-Rodríguez Johanna, Zenteno Juan Carlos

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 25427842
DOI: 10.1002/ajmg.a.36851

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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