Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness

• Published in: American journal of medical genetics. Part A Vol. 136A; no. 3; pp. 233 - 241
• Main Authors: Agarwal, Vishal K., Lachman, Ralph S., Rimoin, David L., Wilcox, William R.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 30-07-2005
• Subjects: Abnormalities, Multiple - pathology; acromesomelic; Adolescent; Adult; Bone Diseases, Developmental - pathology; Calcinosis - pathology; Child; Child, Preschool; Follow-Up Studies; Hearing Loss, Sensorineural - pathology; Humans; Male; mega-epiphyses; mesomelic; Middle Aged; Myopia - pathology; Osteochondrodysplasias - pathology; punctate calcifications; Retinal Detachment - pathology; rhizomelic; skeletal dysplasia; stippled epiphyses; Upper Extremity Deformities, Congenital - pathology
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.30805

We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and pubic punctate calcifications (stippling), mega‐epiphyses, platyspondyly, anterior beaking of the vertebrae, and sensorineural hearing loss. We compare this case to the other reported forms of skeletal dysplasias, particularly the mesomelic, acromesomelic, and mega‐epiphyseal disorders. © 2005 Wiley‐Liss, Inc.