| Title | Is geroderma osteodysplastica underdiagnosed? | | Author(s) | Hunter AG | | Institution | Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada. | | Source | J Med Genet 1988 Dec; 25(12):854-7. | | MeSH | Child
Cutis Laxa
Facial Bones
Female
Genes, Recessive
Humans
Osteoporosis
Skin Abnormalities
Syndrome
| | Abstract | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 3236370 |
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