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Definition

A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature.

Acronym

BCYM4

Synonyms

SEMD Pakistani type
Spondylodysplasia and premature pubarche
Spondylometaepiphyseal dysplasia Pakistani type

Keywords

Dwarfism

 
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