X-linked mental retardation (XLMR) is genetically heterogeneous and clinically variable. We describe a new XLMR syndrome of severe mental retardation and multiple congenital anomalies. Two sisters have (with 3 different partners) 3 severely handicapped sons. In 2 cases, oligohydramnios and intrauter
โฆ LIBER โฆ
Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome
โ Scribed by Arena, J. Fernando ;Schwartz, Charles ;Stevenson, Roger ;Lawrence, Laura ;Carpenter, Anna ;Duara, Ranjan ;Ledbetter, David ;Huang, Tim ;Lehner, Thomas ;Ott, Jurg ;Lubs, Herbert A.
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 907 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We describe two brothers with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum (ACC). Both boys have lowโset cupped ears with sensorineural hearing loss, normal phall