A case of acampomelic campomelic dysplasia.
Acampomelic campomelic dysplasia is a rare variant of campomelic dysplasia syndrome affecting bone and connecting tissue. This syndrome is implicated by the absence of bowed limbs. Affected children have a characteristically smooth facial profile and are born with respiratory distress. A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set ears and a small thoracic cage. Limbs were mesomelically short and bilateral talipes equinovarus was present. The radiological findings indicated hypoplastic scapulae, narrow ribs, small thorax, thin claviculaes, and small iliac wings. Angulation of the femur, tibia and humerus was not observed. Our case, suited to acampomelic campomelic dysplasia, is discussed with differential diagnosis and compared with previously reported cases of the syndrome.
Ozkilic
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Department of Genetics and Teratology Research Center (GETAM), Cerrahpasa Medical Faculty, Istanbul University, Turkey.
Seven
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Yuksel
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D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn; D012540:Scapula / Q000002:abnormalities; D013577:Syndrome; D014421:Turkey