A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D001724:Birth Weight; D004476:Ectodermal Dysplasia / Q000235:genetics; D004480:Ectromelia / Q000150:complications; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D012868:Skin Abnormalities; D013577:Syndrome; D014469:Umbilical Arteries / Q000002:abnormalities