Clinical and radiological findings. A. Patients general appearance with rhizomelic limb shortening. B. A large head with protruding forehead, mid facial hypoplasia, depressed nasal bridge, hypoplasic chin, short neck. C. Short trident hands. D. Radiograph showing bowing and shortness of legs with metaphyseal flaring. Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. Ros-Pérez P, Regidor FJ, Colino E, Martínez-Payo C, Barroso E, Heath KE - BMC pediatrics (2012). Not Altered. CC.