Neurologic and gastrointestinal dysfunction in cardio‐facio‐cutaneous syndrome: Identification of a severe phenotype
نویسندگان
چکیده
منابع مشابه
Cardiofaciocutaneous 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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این پایان نامه به بررسی و مقایسه دو موضوع مطابقه میان فعل و فاعل (از نظر شخص و مشار) و هسته عبارت در دو زبان انگلیسی و آذربایجانی می پردازد. اول رابطه دستوری مطابقه مورد بررسی قرار می گیرد. مطابقه به این معناست که فعل مفرد به همراه فاعل مفرد و فعل جمع به همراه فاعل جمع می آید. در انگلیسی تمام افعال، بجز فعل بودن (to be) از نظر شمار با فاعلشان فقط در سوم شخص مفرد و در زمان حال مطابقت نشان میدهند...
15 صفحه اولSevere gastrointestinal autonomic dysfunction in a diabetic boy.
Autonomic neuropathies are normally subclinical in diabetic children and adolescents, but in poorly controlled patients may be extremely symptomatic [1]. Gastrointestinal (GI) autonomic dysfunction may include esophageal dysmotility, gastroparesis, dysfunction of intestinal neurons, and decreased/absence of gastrocolic reflex [1, 2]. We report a case of a diabetic boy who had a severe GI dysaut...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics
سال: 2000
ISSN: 0148-7299,1096-8628
DOI: 10.1002/1096-8628(20001113)95:2<135::aid-ajmg8>3.3.co;2-a