[Focal dermal hypoplasia, or the Goltz-Gorlin syndrome].
A female newborn is reported with focal dermal hypoplasia (Goltz-Gorlin syndrome) presenting multiple skin and extremity-abnormalities. A short review of today's literature in relation to mode of inheritance and clinical manifestations is given.
van Beek
R H
RH
Afd. Kindergeneeskunde, Academisch Ziekenhuis Leiden.
Maaswinkel-Mooy
P D
PD
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004476:Ectodermal Dysplasia / Q000150:complications*; D005124:Eye Abnormalities / Q000150:complications; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D013576:Syndactyly / Q000150:complications*; D014960:X Chromosome
Focale dermale hypoplasie, ofwel het syndroom van Goltz-Gorlin.