Cutaneous findings include unusual dermatoglyphic patterns and kelo ds 1 . Abnormalities of glucose metabolism and neoplasms have been described 1,11 . Most cases are sporadic. The disorder has been located to 16p13.3 and then permits subsequent identification of submicroscopic deletion of this region 13 . 16p13.3 is the region encompassing the 3 end of cyclic AMP responsible binding protein gene.
Prenatal features suggest a skeletal dysplasia.
There is neither bone deformity nor poor or absent mineralization. However postnatal studies describe retarded osseous maturation and short stature later in the life but not neonatal limb shortening. We consider in this case that delayed osseous maturation begin during intra-uterine life. An abnormal profile with retrognathism. The clue to diagnosis is achieved by the appearance of the radial deviation of the thumb.