Hypoglycemia in Coffin-Siris syndrome
β Scribed by Imaizumi, Kiyoshi ;Nakamura, Mihoko ;Masuno, Mitsuo ;Makita, Yoshio ;Kuroki, Yoshikazu
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 231 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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## Abstract CoffinβSiris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Al
We describe a 23-year-old woman with growth and mental retardation, hypoplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a "coarse" face with large mouth and large tongue, and bushy eyebrows. Followup from birth to adulthood showed that development
Coffin and Siris [1970] described three unrelated girls with mental impairment and growth restriction associated with the absence of the nail and distal phalanx of the fifth finger. Since then, more than 70 additional patients have been described with similar features. Fleck et al. [2001] presented