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Created with Fabric.js 1.4.5 Focal Dermal Hypoplasia [Goltz-Gorlin Syndrome] R.W. Goltz first discovered this disorder in 1962 when he reported the symptoms in 3 girls. SYMPTOMS: The PORCN gene responsiblefor this is located on the short arm of the X chromosome. While there is no specificethnicity that is more pronethan others, it is much more common in women. Advocacy Center (for diseases and disabilities)1010 Common StreetSuite 2600New Orleans, LA 70112 504-522-2337 Families Helping Families510 W University Ave Lafayette, LA 70506 (337) 984-3458 Global Genes Project28 Argonaut, Suite 150Aliso Viejo, CA 92656 949-248-7273 Diagnosis: It is diagnosed by the presence of the skin abnormalities combined with fatty deposits found in areas of the body including the gums, lips, armpits, vagina, or anus. It is distinguished from other similar disorders by the lack of skin pigmentation in these affected areas. Treatment: The most common formof treatment would be dermatological creams or other treatments for the skin problems. Teeth problems may require some kind of dental care, such as surgery.Nose/throat swelling will need respir-atory therapy to keep these areas clear and prevent breathing problems. Skeletal deformations can be corrected with orthopedic surgery. Baxter, A. M., et al. Right hand and finger defects. British Dental Journal. Macmillan, 25 Nov. 2000. Web. 26 Feb. 2014. < fig_tab/4800826a_F2.html>. -Skin lesions-Missing hair patches-Poorly formed teeth-Incompletely formed eyes-Excessive skin growth on hands and feet-Poor bone formation (missing, extra, or deformed fingers and/or toes)-Spinal curvature-Underdeveloped jawbone-Fused vertabrae -Nose/throat swelling Focal dermal hypoplasia is a sex-linked (X-linked) dominant disorder. No one carries this; it is a genetic mutation that is thought to occur after conception. Baxter, A. M., et al. Disorder of skin pigmentation and herniation of fat deposits on the skin. British Dental Journal. Macmillan, 25 Nov. 2000. Web. 26 Feb. 2014. < 4800826a_F1.html>. Baxter, A. M., et al. Enamel hypoplasia and peg-shaped maxillary anterior teeth. British Dental Journal. Macmillan, 25 Nov. 2000. Web. 26 Feb. 2014. <>. double click to changethis text! Drag a cornerto scale proportionally. Lauren Guidry - 1st hour - 2/26/14
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