Delineation of the costello syndrome
β Scribed by Martin, Rick A. ;Jones, Kenneth Lyons
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 340 KB
- Volume
- 41
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
β¦ Synopsis
We present a lbyear-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical fmdings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et al.
π SIMILAR VOLUMES
## 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__
We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct "coarse" face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin de
We review the cardiac abnormalities in 94 patients (27 new, 67 literature) with Costello syndrome, an increasingly recognized syndrome consisting of increased birth weight, postnatal growth retardation, and distinctive facial, skin, and musculoskeletal features (MIM 218040). A cardiac abnormality wa