C 0 s tello or Facio-Cut aneous-Skelet a1 Syndrome? 2 ' 0 the Editor: Borochowitz et al. [19921 described five unrelated patients (a male and four females) with a presumably undefined multiple congenital anomalies/mental retardation syndrome which has been designated the faciocutaneous-skeletal (FCS
β¦ LIBER β¦
Facio-cutaneous-skeletal syndrome: New nosological entity or Costello syndrome?
β Scribed by Borochowitz, Zvi ;Pavone, L. ;Mazor, G. ;Rizzo, R. ;Dar, H.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 117 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Because Cardioβfacioβcutaneous (CFC) syndrome has significant phenotypic overlap with Costello syndrome, it may be difficult to establish the diagnosis on a clinical basis. The recent discoveries of germline __HRAS__ mutations in patients with Costello syndrome and mutations in __BRAF__