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Definition

An autosomal recessive bone disease characterized by spine abnormalities, mid-face hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Disease severity and clinical manifestations are variable. Some patients have mental retardation.

Acronym

SEMDSP

Synonyms

Short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation
Sponastrime dysplasia
Spondylar and nasal alterations with striated metaphyses

Keywords

Dwarfism

 
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