Is geroderma osteodysplastica underdiagnosed? Journal of medical genetics. [J Med Genet] Journal article

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.

Journal of medical genetics. [J Med Genet]

Child
Cutis Laxa
Facial Bones
Female
Genes, Recessive
Humans
Osteoporosis
Skin Abnormalities
Syndrome