[Campomelic syndrome (author's transl)].
A female premature infant with dwarfism, peculiar facial features, cleft palate and bone anomalies including bowing of the lower extremities with pretibial skin dimpling, the so called "campomelic syndrome" is presented. Other symptoms were hypotonia and respiratory distress. The radiological and autopsy findings in this child are described. The lack of known teratogenic factors during the pregnancy and the available data about the familial occurance of this malformation syndrome suggest the possibility of an autosomal recessive mode of inheritance in this patient. This is the first case of campomelic syndrome reported from Iran.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002972:Cleft Palate / Q000150:complications; D004374:Ductus Arteriosus, Patent / Q000150:complications; D004392:Dwarfism / Q000150:complications; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000150:complications; D006801:Humans; D006869:Hydronephrosis / Q000150:complications; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D009123:Muscle Hypotonia / Q000150:complications; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014513:Ureter / Q000002:abnormalities
Das kampomele Syndrom.