Is geroderma osteodysplastica underdiagnosed?
A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.
Hunter
A G
AG
Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
D002648:Child; D003483:Cutis Laxa / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D010024:Osteoporosis / Q000235:genetics*; D012868:Skin Abnormalities; D013577:Syndrome