Acro-Spondylo-Pubic Dysostosis Associated with Cataracts, Microcephaly, and Normal Intelligence

作者：Chacon Camacho Oscar F; Villegas Ruiz Vanessa; Buentello Volante Beatriz; Pina Aguilar Raul E; Pelaez Gonzalez Hugo; Ramirez Magdalena; Gonzalez Rodriguez Johanna; Carlos Zenteno Juan

来源：American Journal of Medical Genetics, Part A, 2015, 167A(2): 282-286.

DOI：10.1002/ajmg.a.36851

• dysostosis
• absent pubic ramus
• absent patella
• abnormal metacarpals
• agenesis of fingers
• camptodactyly
• syndactyly
• cataract
• polythelia
• absent nails

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.

• 出版日期2015-2