Is geroderma osteodysplastica underdiagnosed?
نویسنده
چکیده
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.
منابع مشابه
Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: A report of two unrelated patients and a literature review
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عنوان ژورنال:
- Journal of medical genetics
دوره 25 12 شماره
صفحات -
تاریخ انتشار 1988