There is a high incidence of fractures, but it is not demonstrated that it is due to slender of long bones 7 . Halluces are broad or partially duplicated 7 . The most common defects are patent ductus arteriosus, ventricular septal defect atrial-septal defect and coarctation of the aorta. 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.