Goltz syndrome: a rare case of father-to-daughter transmission
نویسندگان
چکیده
منابع مشابه
Gorlin-Goltz syndrome: A rare case report
Gorlin-Goltz syndrome (GS), also known as nevoid basal cell carcinoma syndrome, is an infrequent multisystem disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterised by keratocystic odontogenic tumours (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormalities. This syndrome may be diagnosed ear...
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Although odontogenic keratocysts are common in clinical practice, the simultaneous occurrence of multiple cysts in both the maxilla and mandible of a patient is rare. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaws, multiple basal cell nevi carc...
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Goltz syndrome / Focal Dermal Hypoplasia (FDH) is a rare syndrome resulting from developmental defects in tissues with mesodermal origin such as eye, skin, mouth, muscoloskeletal, and central nervous system. We report a 13-year-old girl with FDH who had several features of skin, eye, and mouth involvement. She also had revurrent otitis media, which has not been reported so far.
متن کاملGorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder
Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. Case Report. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient. Discussion. Gorlin-Goltz syndrome is about multisyste...
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Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis involving all three embryonic layers. Herein, the first case of this syndrome from Iran will be reported. The main clinical features were fat herniation, reticulate pigmentations, telangiectasia, and skeletal defects.
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2016
ISSN: 1757-790X
DOI: 10.1136/bcr-2016-216599