Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome.
A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.
D000293:Adolescent; D002648:Child; D003238:Connective Tissue / Q000473:pathology; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D011371:Progeria / Q000235:genetics; D012867:Skin / Q000648:ultrastructure