Patient 1. A and B. Microcephaly, mild hypertelorism, droopy skin on the cheeks of the face and neck, epicanthal folds, small nose with anteverted nares, long philtrum, thin upper lip and retrognathia and blue sclera. C. Loose and wrinkled skin in the abdomen, arms and legs. D. Increased gluteal folds E. Hyperextensible joints. F. and 5th finger clinodactyly G–I. Phenotype at 3 years old.