We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstablen
✦ LIBER ✦
Smith-Fineman-Myers syndrome in two brothers
✍ Scribed by Adès, Lesley C. ;Kerr, Bronwyn ;Turner, Gillian ;Wise, Grahame
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 375 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.
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