We describe 3 sibs (2 males and 1 female) with multiple congenital anomalies, poor growth, seizures, and progressive central nervous system (CNS) degeneration leading to death in infancy. Radiographic changes in all 3 were similar, and included moderate shortness of long bones, platyspondyly, and hy
Perrault syndrome: Evidence for progressive nervous system involvement
โ Scribed by Fiumara, Agata ;Sorge, Giovanni ;Toscano, Antonio ;Parano, Enrico ;Pavone, Lorenzo ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 120 KB
- Volume
- 128A
- Category
- Article
- ISSN
- 0148-7299
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