Apert's syndrome

(Eugene Apert, 1868 - 1940, French paediatrician), an autosomal dominant disorder characterized by closure of the sutures, hypoplasia of the midface, and syndactyly of both hands and feet. At birth affected infants also have an extensive midline calvarial defect. The calvaria is thin and undermineralized. Brachycephaly is seen after the first 4 years of life when the sagittal suture area closes. The child has small orbits, a hypoplastic maxilla and a small nasopharynx. In addition, the thumb is deviated and a complex osteocartilaginous syndactyly of the distal phalanges is seen. Abnormalities of the foot include syndactyly, a triangular first proximal phalanx, and progressive fusion of tarsal and metatarsal bones. Bone fusion may also be evident in other joints, including the cervical spine. (See acrocephalosyndactyly (III:1), Fig. 1)

DR