Literature DB >> 477680

Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).

J Kunze, K Heyne, H R Wiedemann.   

Abstract

We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.

Entities:  

Mesh：

Year:  1979        PMID： 477680     DOI： 10.1007/bf00538945

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  19 in total

1.  FOCAL DERMAL HYPOPLASIA SYNDROME.

Authors:  R J GORLIN; L H MESKIN; W C PETERSON; R W GOLTZ
Journal:  Acta Derm Venereol       Date:  1963       Impact factor: 4.437

2.  CONGENITAL FOCAL DERMAL HYPOPLASIA.

Authors:  I MARTIN-SCOTT
Journal:  Br J Dermatol       Date:  1965-01       Impact factor: 9.302

3.  [Forms of congenital poikiloderma].

Authors:  P WODNIANSKY
Journal:  Arch Klin Exp Dermatol       Date:  1957

4.  The genetics of hand malformations.

Authors:  S A Temtamy; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1978

5.  [On a rare association of craniofacial malformative syndrome and congenital absence of the fibula].

Authors:  M LANZIERI
Journal:  Ann Ottalmol Clin Ocul       Date:  1961-11

6.  A case of focal dermal hypoplasia syndrome (Goltz) with bilateral cheilo-gnatho-palatoschisis.

Authors:  N H Valerius
Journal:  Acta Paediatr Scand       Date:  1974-03

7.  Focal dermal hypoplasia syndrome. A review of the literature and report of two cases.

Authors:  R W Goltz; R R Henderson; J M Hitch; J E Ott
Journal:  Arch Dermatol       Date:  1970-01

8.  [Goltz's syndrome in a boy].

Authors:  R Walbaum; G Samaille; P Dehaene
Journal:  Pediatrie       Date:  1970-12

9.  [Until now not yet described findings in incontentia pigmenti].

Authors:  K Stollmann
Journal:  Dermatol Wochenschr       Date:  1967-04-29

10.  Goltz's syndrome: focal dermal hypoplasia. A combined mesoectodermal dysplasia.

Authors:  J D Holden; W A Akers
Journal:  Am J Dis Child       Date:  1967-09
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  4 in total

1.  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

2.  The radiological features of Goltz syndrome: focal dermal hypoplasia. A report of two cases.

Authors:  A E Boothroyd; C M Hall
Journal:  Skeletal Radiol       Date:  1988       Impact factor: 2.199

Review 3.  Familial congenital diaphragmatic defect: review and conclusions.

Authors:  G Wolff
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.

Authors:  Tiana M Scott; Ian M Campbell; Andres Hernandez-Garcia; Seema R Lalani; Pengfei Liu; Chad A Shaw; Jill A Rosenfeld; Daryl A Scott
Journal:  J Med Genet       Date:  2021-01-18       Impact factor: 6.318
  4 in total

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