title: Brachyolmia and spinal stenosis.
abstract: 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.
authors.affiliation: Rheumatology Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel. mukamel@bezeqint.net
authors.forename: Masza
authors.initials: M
authors.lastname: Mukamel
authors.forename: Boaz
authors.initials: B
authors.lastname: Karmazyn
authors.forename: Liat
authors.initials: L
authors.lastname: de Vries
authors.forename: Gadi
authors.initials: G
authors.lastname: Horev
authors.forename: Mordechai
authors.initials: M
authors.lastname: Shohat
mesh_terms: 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