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A Rare Case of Gorlin-Goltz Syndrome in Children
The Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome is an autosomal dominant condition disorder with high variability expression.
Fernanda Brasil Daura Jorge Boos Lima +6 more
doaj +2 more sources
Gorlin-Goltz Syndrome: Diagnosis and Treatment Options [PDF]
The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself ...
João Mendes-Abreu +4 more
doaj +2 more sources
Oral manifestation of Goltz-Gorlin syndrome in a young girl [PDF]
Introduction Focal dermal hypoplasia (Goltz-Gorlin syndrome) is a multi-system disorder characterized by involvement of skin, skeletal system, eyes and face. It is caused by loss-of-function mutations in the PORCN gene.
Callea M +7 more
europepmc +2 more sources
Syndromic Multiple Odontogenic Keratocysts Associated With Impacted Teeth: A Rare Case Report. [PDF]
Introduction Odontogenic keratocysts are developmental odontogenic cysts that may occur as solitary lesions or as multiple jaw lesions. Multiple odontogenic keratocysts in young patients should raise suspicion of an underlying syndrome, particularly Gorlin–Goltz syndrome.
Manrapi F +3 more
europepmc +2 more sources
Male Goltz Syndrome due to Postzygotic <i>PORCN</i> Mosaicism: A Case Report. [PDF]
Goltz syndrome, also known as focal dermal hypoplasia (FDH), is a rare X‐linked dominant genetic disorder caused by loss‐of‐function mutations in the PORCN gene, which is crucial for Wnt protein secretion and signaling during embryonic development.
Tran VAD +8 more
europepmc +2 more sources
A case report of Gorlin-Goltz syndrome as a rare hereditary disorder
Gorlin-Goltz syndrome is an autosomal dominant and a rare hereditary disease. Diagnosis of this syndrome is based on major and minor criteria. We report a Gorlin-Goltz syndrome in a 25-year-old male who was presented with progressive pain of maxilla and ...
Mehri Sirous, Nazila Tayari
doaj +1 more source
Gorlin Goltz syndrome: a rare case report [PDF]
Gorlin-Goltz syndrome is uncommon multisystemic disease with an autosomal dominant trait, with complete penetrance and variable expressivity, though sporadic cases have been described.
Gandhi, Mily S. +3 more
core +1 more source
Gorlin-Goltz Syndrome and Neoplasms: A Case Study
Gorlin syndrome is a rare autosomal dominant disorder exhibiting high penetrance and variable expressivity. It is characterized by facial dysmorphism, skeletal anomalies, multiple basal cell carcinomas, odontogenic keratocysts (OKC), palmar and plantar ...
Lee, Maria Lucia +5 more
core +5 more sources
Objective: This case series reports the clinical presentation and management of multiple odontogenic keratocysts (OKCs) in patients with Gorlin Goltz syndrome and in non-syndromic patients.
Omer Sefvan Janjua +4 more
doaj +1 more source
Gorlin–Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing
Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene ...
Hyo Seong Kim +4 more
doaj +1 more source

