Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.
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.
Agarwal
Vishal K
VK
UCLA School of Medicine, Los Angeles, California, USA.
Lachman
Ralph S
RS
Rimoin
David L
DL
Wilcox
William R
WR
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000473:pathology*; D002114:Calcinosis / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000473:pathology; D010009:Osteochondrodysplasias / Q000473:pathology*; D012163:Retinal Detachment / Q000473:pathology; D038062:Upper Extremity Deformities, Congenital / Q000473:pathology*