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
Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?
β Scribed by Di Rocco, Maja; Picco, Paolo; Arslanian, Araxi; Restagno, Gabriella; Perfumo, Francesco; Buoncompagni, Antonella; Gattorno, Marco; Borrone, Carla
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 50 KB
- Volume
- 73
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971128)73:1<1::aid-ajmg1>3.0.co;2-y
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β¦ Synopsis
mild skeletal dysplasia. A similar case was reported by Bianchi et al.
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