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Prenatal diagnosis of recurrence of short rib-polydactyly syndrome

โœ Scribed by Wu, Meng-Hsing ;Kuo, Pao-Lin ;Lin, Shio-Jean

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
552 KB
Volume
55
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Abstract

We describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants with short ribโ€polydactyly syndrome (SRPS). Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death after birth were noted in the first affected male baby. The affected female twins were detected prenatally by ultrasonography and had the same characteristics, but milder than the previous one. Serial measurements of the thoracic circumference and the 4 limbs were obtained by ultrasound, and showed progressively decreased ratio of thoracic to abdominal circumference and shortness of the limbs. The last male baby also had a similar but variable expression in prenatal ultrasonography. ยฉ 1995 Wileyโ€Liss, Inc.

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