EDS IV (acrogeria): new autosomal dominant and recessive types.
Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.
D000328:Adult; D002648:Child; D003094:Collagen / Q000172:deficiency; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D012867:Skin / Q000378:metabolism / Q000473:pathology
D003094:Collagen