Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.
Borochowitz
Z
Z
Simon Winter Institution of Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.
Langer
L O
LO
Gruber
H E
HE
Lachman
R
R
Katznelson
M B
MB
Rimoin
D L
DL
D001848:Bone Diseases, Developmental / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics