Spondylometaphyseal dysplasia-Sedaghatian type.
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.
Elçioglu
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Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Turkey.
Hall
C M
CM
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