title: Spondylometaphyseal dysplasia-Sedaghatian type.
abstract: We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly.
authors.affiliation: Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Elçioglu
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005360:Fibula / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging