Biomaterial Database

Supraclavicular Dermo-Muscular Agenesis in an Infant With Gorlin-Goltz Syndrome. 2018

Canser Yilmaz Demir, and Omer Faruk Kocak

Department of Plastic, Reconstructive and Aesthetic Surgery, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey.

Gorlin-Goltz syndrome (GGS) is generally characterized by the dysplasia of the skin, skeletal system, and connective tissue. In this paper, a 40-day-old baby presented with dermal and muscular agenesis on the right supraclavicular region and clinically diagnosed with GGS will be reported. To the best of the authors' knowledge, this is the first report of GGS in the literature accompanied by muscular agenesis and also this is the youngest patient diagnosed with GGS.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001478	Basal Cell Nevus Syndrome	Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.	Gorlin Syndrome,Nevoid Basal Cell Carcinoma Syndrome,Nevus Syndrome, Basal Cell,Fifth Phacomatosis,Gorlin-Goltz Syndrome,Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies,NBCCS,Fifth Phacomatoses,Gorlin Goltz Syndrome,Syndrome, Gorlin,Syndrome, Gorlin-Goltz
D012868	Skin Abnormalities	Congenital structural abnormalities of the skin.	Abnormalities, Skin,Abnormality, Skin,Skin Abnormality
D018482	Muscle, Skeletal	A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.	Anterior Tibial Muscle,Gastrocnemius Muscle,Muscle, Voluntary,Plantaris Muscle,Skeletal Muscle,Soleus Muscle,Muscle, Anterior Tibial,Muscle, Gastrocnemius,Muscle, Plantaris,Muscle, Soleus,Muscles, Skeletal,Muscles, Voluntary,Skeletal Muscles,Tibial Muscle, Anterior,Voluntary Muscle,Voluntary Muscles