Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin.
A 13-day-old, preterm, male infant was referred for respiratory distress syndrome (RDS) and jaundice. His twin sister had died of RDS on the second day of life in another hospital. The patient had typical features of spondylocostal dysplasia. Ventricular septal defect (VSD) and patent ductus arteriosus (PDA) were also diagnosed by echocardiographic evaluation. Parental consanguinity was not reported. There were no other similar cases in the family, and his twin sister and five-year-old living sister were free of deformities. Therefore, autosomal-recessive transmission may be considered first; however, because the patient was the only affected individual in this family, second denovo autosomal-dominant mutation should also be considered. This is the first reported case of spondylocostal dysplasia with VSD and PDA to our knowledge.
Ozkinay
F
F
Department of Pediatrics, Ege University Faculty of Medicine, Bornova, Izmir.
Akisü
M
M
Oral
R
R
Tansuğ
N
N
Ozyürek
R
R
Kültürsay
N
N
D000015:Abnormalities, Multiple; D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D004200:Diseases in Twins; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D014463:Ultrasonography