Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

doi:10.1002/ajmg.1320550409

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Article

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

American journal of medical genetics - 13 Feb 1995

Sorge G, Ardito S, Genuardi M, Pavone V, Rizzo R, Conti G, Neri G, Katz B E, Opitz J M

Abstract excerpt

Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalitie...

Topics

Abnormalities, Multiple
Child
Female
Femur
Fibula
Foot Deformities, Congenital
Genes, Dominant
Humans
Infant
Male
Middle Aged
Models, Biological
Phenotype
Tibia

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