Literature DB >> 842347

A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects.

N Beganović, E J Lommen.   

Abstract

A case of Focal Dermal Hypoplasia (Goltz syndrome), diagnosed at birth, is reported. Some findings not formerly described (hemimelia, schizis of the palatum molle and the absence of one umbilical artery) are reported. Normal findings in chromosome studies with banding techniques are discussed.

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Year:  1977        PMID: 842347     DOI: 10.1111/j.1651-2227.1977.tb07844.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  3 in total

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

Authors:  J Kunze; K Heyne; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1979-06-28       Impact factor: 3.183

2.  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

3.  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

  3 in total

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