Prenatal diagnosis of Jeune syndrome.
We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.
D000328:Adult; D001238:Asphyxia Neonatorum / Q000150:complications*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000235:genetics; D013909:Thorax / Q000002:abnormalities*; D014463:Ultrasonography