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Case Reports
. 2004 Jul;145(1):119-21.
doi: 10.1016/j.jpeds.2004.04.033.

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

Bettina Borm  1 , Lisbeth Birk Møller, Ingrid Hausser, Michael Emeis, Kurt Baerlocher, Nina Horn, Rainer Rossi
Affiliations
Case Reports

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family

Bettina Borm et al. J Pediatr. 2004 Jul.

Abstract

Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.

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