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 journalArticlepeer-review

5 Citations (Scopus)


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
Issue number2
Early online date26 Nov 2014
Publication statusPublished - Feb 2015

Bibliographical note

We would like to thank Dr. Juan Manuel Valde´s and Dr. Heraclio Gutierrez for their support in the conventional karyotype analysis and Dr. Sara Frias-Vazquez and Dr. Leda Torres-Maldonado for their help at molecular karyotyping procedures.


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


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