Premature thelarche in Coffin-Siris syndrome
β Scribed by Brunetti-Pierri, Nicola ;Esposito, Valentina ;Salerno, Mariacarolina
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 74 KB
- Volume
- 121A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## 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