| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis and metaphyses, corneal clouding and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge and short upturned nose. |
