Dermatological manifestations in cardiofaciocutaneous syndrome
نویسندگان
چکیده
منابع مشابه
Cardiofaciocutaneous syndrome with new ectodermal manifestations.
We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but th...
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Down's syndrome (DS) is associated with rare dermatological disorders and increased frequency of some common dermatoses. Owing to advances in medical care and changes in attitude, the median age of death in this population has increased to 49 years, and the life expectancy of a 1-year-old person with DS today is more than 60 years and is likely to improve. With the increase in the number of ind...
متن کاملCardiofaciocutaneous Syndrome
DEFINITION Cardiofaciocutaneous (CFC) syndrome is a relatively rare genetic disorder first described by Reynolds et al. in 1986 based on the observation of eight unrelated patients with very similar facial appearance characterized by unusually sparse, brittle, curly hair, large head (macrocephaly), a prominent forehead, and abnormal narrowing of the sides of the forehead (bitemporal constrictio...
متن کاملThe cardiofaciocutaneous syndrome.
The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depres...
متن کاملCardiofaciocutaneous Syndrome With Occipital Encephalocele
Cardiofaciocutaneous (CFC) syndrome is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by growth failure, distinctive facial appearance, ectodermal abnormalities, and congenital heart defects1. Around 100 cases have been reported in literature to date. We describe here a child with features of cardiofaciocutaneous syndrome. Parental consanguinity and occi...
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ژورنال
عنوان ژورنال: British Journal of Dermatology
سال: 2019
ISSN: 0007-0963,1365-2133
DOI: 10.1111/bjd.17371