Cardiofaciocutaneous syndrome with new ectodermal manifestations.
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...
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...
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 کاملOtologic manifestations of ectodermal dysplasia.
OBJECTIVES To determine the range and prevalence of otologic disorders in patients with ectodermal dysplasia (ED) and provide a general review of its multiple otolaryngological manifestations. DESIGN Case series. SETTING Ectodermal dysplasia family conference. PATIENTS Sixty-nine individuals with ED were evaluated. The average age was 11 years (range, 1-56 years). Most were male patients ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.6.428