Richard Gorlin
نویسندگان
چکیده
منابع مشابه
Gorlin-Goltz syndrome.
Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The...
متن کاملGorlin-Goltz Syndrome
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multi...
متن کاملMeier-Gorlin syndrome
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical ...
متن کاملGorlin-Goltz Syndrome
The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very...
متن کاملGorlin syndrome: a case report
He denied any same history and lesions in his family and child. Patient’s medical, personal and family history was non-contributory. In physical examination dysmorphic features such as macrocephaly, prognatism and linear scar of operation in right side of his mandible were observed. Inspection revealed numerous (over 20) pigmented, some skin colour, papules and nodes on his cheeks, eyebrow, nos...
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ژورنال
عنوان ژورنال: Clinical Cardiology
سال: 1998
ISSN: 0160-9289,1932-8737
DOI: 10.1002/clc.4960211119