Osteopoikilosis: report of a familial case.

Article

Osteopoikilosis: report of a familial case.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1994

Sarralde A, Garcia-Cruz D, Nazara Z, Sanchez-Corona J

Abstract excerpt

We describe four members of a family in which the clinical and radiological findings lead to consider the diagnosis of osteopoikilosis. The symptoms in all affected members were only those referred to as typical radiological features; these features became more extensive with older age. None of t...

Topics

Adult
Bone and Bones
Chromosome Aberrations
Chromosome Disorders
Female
Genes, Dominant
Genetic Carrier Screening
Humans
Osteopoikilosis
Pedigree
Phenotype
Radiography

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