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A further case of vertical transmission of proximal femoral focal deficiency?

✍ Scribed by Bohring, Axel; Oppermann, Hans-Conrad

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 12 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<194::aid-ajmg14>3.0.co;2-9

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✦ Synopsis

We report on a newborn boy with congenital asymmetrically hypoplastic fibulae, lateral oligodactyly, and mild left ectrodactyly. The patient's grandfather had a short femoral shaft with a slightly smaller collodiaphyseal angle on the left as compared to the right side, probably a proximal focal femoral deficiency (PFFD). The upper limbs were not affected in either patient. PFFD in the grandfather and hypoplastic fibulae with lateral ray defects in the grandson raise the possibility of genetic transmission, specifically autosomal-dominant inheritance with variable penetrance and expressivity. This case gives further support to the fibular developmental field concept postulated by

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