Cousin syndromeJoe Segen2016-11-25T12:43:55+00:00
A probably autosomal recessive condition (OMIM:260660) characterised by pelviscapular dysplasia with epiphyseal defects, dwarfism and facial dysmorphism–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 Defects of TBX15, which encodes a T-box DNA-binding transcription regulator of development processes, including that of mesenchymal precursor cells and chondrocytes, cause Cousin syndrome.
Synonym Craniofacial dysmorphism—hypoplasia of scapula and pelvis—and short stature, pelviscapular dysplasia