Spondylometaphyseal dysplasia with cone-rod dystrophy.
The co-occurrence of ophthalmologic abnormality and intrinsic skeletal dysplasia is uncommon. We describe eight instances of a unique form of spondylometaphyseal dysplasia (SMD) associated with cone-rod dystrophy (although documentation is insufficient to be certain of that diagnosis in some). This is a new, syndromic form of SMD for which there is evidence for autosomal recessive transmission. Recognition of the specific bony features described here should precipitate comprehensive ophthalmologic assessment, since vision impairment becomes significantly disabling with age.
Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.
Brent A
BA
Walters
Michael L
ML
Raff
James Ver
JV
Hoeve
Rachel
R
Tesser
Leonard O
LO
Langer
Thomas D
TD
France
Ian A
IA
Glass
Richard M
RM
Pauli
D001133:Bones of Upper Extremity / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007223:Infant; D007867:Leg Bones / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000473:pathology*; D010388:Pelvis / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D012162:Retinal Degeneration / Q000150:complications* / Q000473:pathology*; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology