After the publication of F'ryns and Buttiens [19871 reporting 2 pairs of brothers with X-linked mental retardation and Marfanoid habitus, we had the occasion to diagnose this X-linked condition in 4 other males, 2 brothers and 2 isolated patients. They were all referred to the Genetic Clinic with t
A form of X-linked mental retardation with marfanoid habitus
β Scribed by Lujan, J. Enrique ;Carlin, Mary Esther ;Lubs, Herbert A. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 505 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0148-7299
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Two patients with marfanoid habitus and craniosynostosis, but with normal mental development were reported by Furlong et al., [1987] and Lacombe and Battin [1993]. We now report on a third case in a young adult male, describing the osseous findings. ## CLINICAL REPORT J.H. is the first child of h
We reevaluated a family previously described as having nonspecific X-linked mental retardation (XLMR) by Snyder and Robinson [ 1969: Clin Pediatr 8:669-674] (MIM 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild-to-moderate mental retardation, 3 carrier fe