Article
Osteodysplastic variant of primordial dwarfism.
American journal of medical genetics - 1 Aug 1991
Shebib S, Hugosson C, Sakati N, Nyhan W L
Abstract excerpt
A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity...
Topics
- Abnormalities, Multiple
- Bone Diseases, Developmental
- Child
- Dwarfism
- Female
- Genes, Recessive
- Humans
- Intellectual Disability
- Phenotype