title: Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.
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.
authors.affiliation: Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.
authors.forename: Oscar F
authors.initials: OF
authors.lastname: Chacon-Camacho
authors.forename: Vanessa
authors.initials: V
authors.lastname: Villegas-Ruiz
authors.forename: Beatriz
authors.initials: B
authors.lastname: Buentello-Volante
authors.forename: Raul E
authors.initials: RE
authors.lastname: Piña-Aguilar
authors.forename: Hugo
authors.initials: H
authors.lastname: Peláez-González
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ramírez
authors.forename: Johanna
authors.initials: J
authors.lastname: González-Rodríguez
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002386:Cataract / Q000175:diagnosis*; D002871:Chromosome Banding; D056915:DNA Copy Number Variations; D004413:Dysostoses / Q000175:diagnosis*; D023281:Genomics; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D008831:Microcephaly / Q000175:diagnosis*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome; D014057:Tomography, X-Ray Computed
keywords: abnormal metacarpals; absent nails; absent patella; absent pubic ramus; agenesis of fingers; camptodactyly; cataract; dysostosis; polythelia; syndactyly