نتایج جستجو برای: goltz syndrome

تعداد نتایج: 621999  

Journal: :Saudi medical journal 2006
Sule Yucetas Sedat Cetiner Tulin Oygur

This report represents the suspected familial case series of odontogenic keratocysts OKCs related to Gorlin Goltz syndrome GGS, a rare genetic disorder characterized mainly by multiple basal cell carcinomas, OKCs and other less frequent skeletal and neurological manifestations. Familial cases included grandmother's father, grandmother, father and son. Although they had all OKCs, father addition...

2010
Addis Tenkir Samuel Teshome

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...

2013
Ivelina Yordanova Dimitar Gospodinov Veselin Kirov Verka Pavlova Galja Radoslavova

Gorlin-Goltz syndrome (GGS) also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal-dominant disorder characterized mainly by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts of the jaw and palmar pits. This syndrome is associated with a wide spectrum of developmental anomalies and neoplasms. A case of familial Gorlin-Goltz syndrome with many of the c...

Journal: :Journal of medical genetics 1990
I K Temple J A Hurst S Hing L Butler M Baraitser

A female infant is described with an unusual combination of eye and skin findings. Raw linear skin lesions on the face and neck were present at birth, healing to leave pigmented streaks. In addition she had left sided microphthalmia and bilateral sclerocornea. Chromosome analysis showed a terminal deletion of the short arm of the X chromosome (Xp22.2--pter). Clinical findings were similar to th...

Journal: :Journal of medical genetics 1990
L I al-Gazali R F Mueller A Caine A Antoniou A McCartney M Fitchett N R Dennis

We describe two females with de novo X;Y translocations, who presented at birth with irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and orbital cysts. The features in these children are similar to but distinct from those seen in females with Goltz syndrome and incontinentia pigmenti. Cy...

2015
Parisa Hajalioghli Ali Ghadirpour Reza Ataie-Oskuie Marinos Kontzialis Nariman Nezami

A 15-year-old girl was referred to a dentist complaining of parageusia, bad taste in the mouth, which started 9 months ago. Panoramic X-ray and non-enhanced computed tomography scan revealed multiple bilateral unilocular cysts in the mandible and maxilla, along with calcification of anterior part of the falx cerebri. She was eventually diagnosed with Gorlin-Goltz syndrome based on imaging and h...

Journal: :Indian Dermatology Online Journal 2013

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