Robinow's syndrome: prenatal diagnosis.
The prenatal diagnosis of Robinow's syndrome was accomplished in our case by measuring the length of the long bones and the ulna/humerus ratio. Although the prenatal sonographic appearance did not show the typical 8-week fetal face, pathological findings confirmed this particular feature. In view of the strongly suggestive family history, the authors consider the possible mechanisms of genetic inheritance.
Cattedra di Patologia Ostetrica e Ginecologia R, Università degli Studi di Bari, Italy.
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Loverro
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Guanti
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Caruso
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Selvaggi
D000328:Adult; D004392:Dwarfism / Q000175:diagnosis*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014457:Ulna / Q000002:abnormalities; D014463:Ultrasonography