Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child
نویسندگان
چکیده
منابع مشابه
Christ Siemens Touraine syndrome: a case report
BACKGROUND The ectodermal dysplasias are a large and complex group of diseases. CASE PRESENTATION This article presents a case in a 37 years old female patient, referred to the dental clinic for impairment patients maintained by the University of Pernambuco. She presented typical characteristics of Christ Siemens Touraine syndrome such as alterations of the inferior members, a great number of...
متن کاملChrist–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association
Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare a...
متن کاملChrist-Siemens-Touraine Syndrome with Self-mutilation Habit: An Unusual Presentation
Ectodermal dysplasia exhibits a classic triad of hypohidrosis, hypotrichosis, and hypodontia. Self- mutilation could be due to organic or functional causes. The occurrence of selfmutilation with functional cause represents a diagnostic challenge to practitioners. In most of the instances dentists are the first to recognize patient with ectodermal dysplasia as they report primarily with a compla...
متن کاملChrist-Siemens-Touraine Syndrome: A Case Report and Review of the Literature
ECTODERMAL DYSPLASIA IS A RARE DISORDER WITH DEFECTS IN TWO OR MORE OF THE FOLLOWING STRUCTURES: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. I...
متن کاملAn autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.
This report details a family in whom there is autosomal dominantly inherited uveal colobomata, associated eye defects, and cleft lip and palate occurring in twelve subjects over three generations. Considerable variability in expression of the gene is apparent, uveal colobomata being the most constant feature, and the full syndrome probably includes mental retardation of varying degree. The poss...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2016
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2015.06.002