Father and Daughter with Focal Dermal Hypoplasia: Goltz Syndrome.

Autor:	Mandli, Sonal, Sharma, Diwaker, Sutaria, Amita H., Shah, Bela J.
Předmět:	GENETIC disorders AGENESIS of corpus callosum EYE abnormalities UMBILICAL hernia GENETIC counseling
Zdroj:	Indian Journal of Paediatric Dermatology; Oct-Dec2024, Vol. 25 Issue 4, p347-348, 2p
Abstrakt:	The letter published in the Indian Journal of Paediatric Dermatology discusses a case of a 7-year-old girl and her father with focal dermal hypoplasia, also known as Goltz syndrome. The girl presented with multiple depigmented skin lesions and various physical abnormalities, while her father had similar skin manifestations. The syndrome is a rare X-linked dominant genetic disorder that affects meso-ectodermal structures, leading to a range of physical and developmental abnormalities. The article emphasizes the importance of early diagnosis, multidisciplinary treatment, and genetic counseling in managing the condition. [Extracted from the article]
Databáze:	Complementary Index
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