Antenatally diagnosed thanatophoric dysplasia.
A case of antenatally diagnosed thanatophoric dysplasia is described. Other syndromes accompanied by chondrodysplastic tetramicromelia were excluded and diagnosis was based on the narrow thorax, secondary pulmonary hypoplasia and macrocephaly detected by ultrasound and on radiological findings of disturbed bone formation. At the mother's request labour was induced and radiological, anatomic and histological examination of the newborn confirmed the prenatal diagnosis. On basis of the literature, the possible aetiology of the disease is discussed and autosomal recessive heredity is suggested. Attention is focussed on the significant hydramnios which led to the suspicion of fetal malformation. The importance in pregnancy of routine ultrasound screening is emphasized, since such malformations can be detected as early as in midtrimester pregnancy.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D000649:Amniocentesis; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D006831:Polyhydramnios / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities; D014463:Ultrasonography