Complaints of symmetric s...

A 9-month-old boy presented with complaints of symmetric syndactyly of both hands and feet, abnormal head shape. No family history of equivalent complaints or any other congenital abnormality was reported. As shown in the figure, the examination revealed abnormal turribrachycephalic head contour (tall and AP shortened), flat occiput, and a protuberant frontal region. Ocular proptosis, strabism, hypertelorism, down sliding lateral palpebral fissures were present. He had midfacial deficiency with the hypoplastic and retruded maxilla. Bilateral symmetrical syndactyly was present, as shown in the figure. The fused fingers and toes had separated nails. 

Radiographs of both hands and feet showed phalanges and the metacarpals of both the hands and feet with a deformed great toe. Anterior-posterior skull radiographs revealed fused coronal sutures, turribrachycephalic skull contour, bitemporal widening, hypertelorism and increased convolutional markings. Three-dimensional CT reconstructions in a super-inferior view announced a midline defect extending from glabella to posterior fontanelle with abnormally wide anterior and posterior fontanelle.