We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome.
β¦ LIBER β¦
Two sibs with fibrochondrogenesis
β Scribed by Leeners, Brigitte ;Funk, Andreas ;Cotarelo, Christina L. ;Sauer, Itta
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 147 KB
- Volume
- 127A
- Category
- Article
- ISSN
- 0148-7299
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