Skeletal malformations Cousin syndrome is a genetic condition characterized by short stature at birth, a short neck with low-positioned external ears, as well as congenital malformations of the skeletal system affecting the shoulders, the pelvis, the neck, and the limbs (MIM number 260660).
The condition was originally described in 1982 by Jacques Cousin, physician in Lilles, France, and colleagues as "familial pelvi-scapular dysplasia with dwarfism and dysmorphisms".
[3] Some sporadic patients reported in the medical literature as "pelvic-shoulder dysplasia" or similar diagnoses may in fact have had Cousin syndrome.
In 2008, the group of Andrea Superti-Furga showed that the condition was caused by biallelic inactivating variants in the gene coding for the T-box transcription factor, TBX15.
[5] An important differential diagnosis in the newborn and infant is campomelic dysplasia, where hypoplasia of the scapulae and of the iliac bones with femoral dislocation may also occur.