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

• Published in: American journal of medical genetics. Part A Vol. 167A; no. 2; pp. 282 - 286
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.02.2015; Wiley Subscription Services, Inc
• Subjects: abnormal metacarpals; Abnormalities, Multiple; absent nails; absent patella; absent pubic ramus; Adult; agenesis of fingers; Bone and Bones - diagnostic imaging; Bone and Bones - pathology; camptodactyly; cataract; Cataract - diagnosis; Chromosome Banding; DNA Copy Number Variations; Dysostoses - diagnosis; dysostosis; Genomics; Humans; Imaging, Three-Dimensional; Male; Microcephaly - diagnosis; Phenotype; Polymorphism, Single Nucleotide; polythelia; syndactyly; Syndrome; Tomography, X-Ray Computed; abnormal metacarpals; absent nails; cataract; agenesis of fingers; absent pubic ramus; polythelia; syndactyly; dysostosis; absent patella; camptodactyly
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.36851

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.