Literature DB >> 7217396

Focal dermal hypoplasia in a father and daughter.

W H Burgdorf, G F Dick, M D Soderberg, R W Goltz.   

Abstract

Focal dermal hypoplasia (FDH) is most often seen in females who have severe mesenchymal defects as well as distinctive cutaneous abnormalities. We describe a 45-year-old man with mild FDH limited entirely to the skin, who was never correctly diagnosed until he fathered a female infant with severe multisystem FDH.

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Mesh：

Year:  1981        PMID： 7217396     DOI： 10.1016/s0190-9622(81)70027-6

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  6 in total

1.  Goltz syndrome and PORCN mosaicism.

Authors:  David A Stevenson; Meghan Chirpich; Yvonne Contreras; Heather Hanson; Karin Dent
Journal:  Int J Dermatol       Date:  2014-07-11       Impact factor: 2.736

2.  Goltz syndrome: a rare case of father-to-daughter transmission.

Authors:  Vishal Gupta; Himabindu Saginatham; Sudheer Arava; Gomathy Sethuraman
Journal:  BMJ Case Rep       Date:  2016-08-16

3.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

4.  Focal dermal hypoplasia (Goltz syndrome).

Authors:  I K Temple; P MacDowall; M Baraitser; D J Atherton
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

5.  Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Authors:  Dhanya Yesodharan; Uta Meyer Zum Büschenfelde; Kerstin Kutsche; K Mohandas Nair; Sheela Nampoothiri
Journal:  Indian J Pediatr       Date:  2018-01-31       Impact factor: 1.967

6.  Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.

Authors:  Sahar Alsharif; Sohad Hindi; Fay Khoja
Journal:  Case Rep Dermatol       Date:  2018-05-03
  6 in total

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