Literature DB >> 21686566

Goltz syndrome: report of two severe cases.

Riddell W Scott1, Eniko K Pivnick, Stacy H Dowell, James W Eubanks, Eunice Y Huang, Ignatia B Van den Veyver, Xiaoling Wang.   

Abstract

Goltz syndrome is a rare, X-linked dominant congenital disorder with abnormalities in derivatives of each of the three embryonic germ layers. Its clinical phenotype varies widely, ranging from isolated skin defects to absence of limbs and/or organs. The rarity and wide range of presentation contribute to delayed or missed diagnosis.

Entities:  

Year:  2009        PMID： 21686566      PMCID： PMC3028403          DOI： 10.1136/bcr.09.2008.0909

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  8 in total

1.  Focal dermal hypoplasia.

Authors:  R W GOLTZ; W C PETERSON; R J GORLIN; H G RAVITS
Journal:  Arch Dermatol       Date:  1962-12

2.  Focal dermal hypoplasia with exuberant fat herniations and skeletal deformities.

Authors:  Sandra Bitencourt Mianda; Delio Delmaestro; Renildes Bertoli; Tânia Marinho; Elton Lucas
Journal:  Pediatr Dermatol       Date:  2005 Sep-Oct       Impact factor: 1.588

3.  Infant with midline thoracoabdominal schisis and limb defects.

Authors:  E K Pivnick; R A Kaufman; G V Velagaleti; W M Gunther; D Abramovici
Journal:  Teratology       Date:  1998-11

Review 4.  Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.

Authors:  Susan Hancock; Peter Pryde; Christine Fong; Jane E Brazy; Katharina Stewart; Amy Favour; Richard M Pauli
Journal:  Am J Med Genet       Date:  2002-07-15

5.  Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

Authors:  Xiaoling Wang; V Reid Sutton; J Omar Peraza-Llanes; Zhiyin Yu; Rebecca Rosetta; Ying-Chuck Kou; Tanya N Eble; Ankita Patel; Christina Thaller; Ping Fang; Ignatia B Van den Veyver
Journal:  Nat Genet       Date:  2007-06-03       Impact factor: 38.330

6.  Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Authors:  Karl-Heinz Grzeschik; Dorothea Bornholdt; Frank Oeffner; Arne König; María del Carmen Boente; Herbert Enders; Barbara Fritz; Michael Hertl; Ute Grasshoff; Katja Höfling; Vinzenz Oji; Mauro Paradisi; Christian Schuchardt; Zsuzsanna Szalai; Gianluca Tadini; Heiko Traupe; Rudolf Happle
Journal:  Nat Genet       Date:  2007-06-03       Impact factor: 38.330

7.  Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

Authors:  I B Van den Veyver
Journal:  Cytogenet Genome Res       Date:  2002       Impact factor: 1.636

8.  Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Authors:  Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Journal:  Am J Hum Genet       Date:  2006-09-06       Impact factor: 11.025
  8 in total

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