Osteodysplastic variant of primordial dwarfism.
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 suggests autosomal recessive inheritance.
Shebib
S
S
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Hugosson
C
C
Sakati
N
N
Nyhan
W L
WL
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability; D010641:Phenotype