Brachyolmia and spinal stenosis.
Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. This group of skeletal dysplasia is heterogeneous and four types have been differentiated on the basis of radiological and genetic findings. We report on two siblings with Hobaek-type brachyolmia complicated by spinal stenosis. This combination has never been reported in the literature and suggests further genetic heterogeneity within brachyolmia.
Mukamel
Masza
M
Rheumatology Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel. mukamel@bezeqint.net
Karmazyn
Boaz
B
de Vries
Liat
L
Horev
Gadi
G
Shohat
Mordechai
M
D000328:Adult; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D035781:Siblings; D013130:Spinal Stenosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics