Cousin syndrome

Cousin syndrome

A condition (OMIM:260660), possibly autosomal recessive, characterised by pelviscapular dysplasia with epiphyseal defects, congenital dwarfism and facial dysmorphism, including frontal bossing, hypertelorism, narrow palpebral fissures, deep-set globes, strabismus, low-set posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck with redundant skin folds, low hairline, and mild psychomotor retardation.

Imaging
Aplasia of the scapula alae, hypoplasia of iliac bone, humeroradial synosthosis, dislocation of femoral heads, moderate brachydactyly.
 
Molecular pathology
Caused by defects of TBX15, which encodes a T-box DNA-binding transcription regulator of development processes, including that of mesenchymal precursor cells and chondrocytes