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

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

*Corresponding author for this work

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)282-286
Number of pages5
JournalAmerican Journal of Medical Genetics. Part A
Volume167
Issue number2
Early online date26 Nov 2014
DOIs
Publication statusPublished - Feb 2015

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Keywords

  • Abnormal metacarpals
  • Absent nails
  • Absent patella
  • Absent pubic ramus
  • Agenesis of fingers
  • Camptodactyly
  • Cataract
  • Dysostosis
  • Polythelia
  • Syndactyly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Chacon-Camacho, O. F., Villegas-Ruiz, V., Buentello-Volante, B., Pina-Aguilar, R. E., Peláez-González, H., Ramírez, M., ... Zenteno, J. C. (2015). Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly and normal intelligence. American Journal of Medical Genetics. Part A, 167(2), 282-286. https://doi.org/10.1002/ajmg.a.36851