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 Printable version |
Disruptive anomalies in a newborn with focal dermal
hypoplasia (Goltz syndrome) |
European Journal of Dermatology. Volume 7, Number 1, 15-8, January - February 1997, Gènes et peau
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 Free Article
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Author(s) : M. Ramsing, T. KN Ngo, W. Holzgreve, A. Rackowitz, W. Küster,
H. Rehder |
Summary : Goltz syndrome (FDH) is an X-linked dominant disease with in utero lethality in males, focal dermal hypoplasia, asymmetric limb defects and a variety of additional anomalies. We report on a newborn female with the characteristic features of Goltz syndrome, but in addition, a large thoraco-gastroschisis and limb defects of a clearly disruptive nature. We suggest that the heterogeneous phenotypic presentation in Goltz syndrome could be explained by focal, genetically determined, disruptive events at different stages of development. With respect to similarities to the X-linked MIDAS and Aicardi syndromes, the occurrence of Goltz syndrome within a contiguous gene syndrome is discussed. |
Keywords : atypical apoptosis, diaphragmatic defect, disruption, focal dermal hypoplasia, Goltz syndrome, limb defects, thoraco-gastroschisis. |
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