Scaphocephaly syndrome 1

General: Craniofacial dysostoses with failure in the devel 414i86e opment of the primitive mesoderm; facial features result from premature fusion of the sagittal cranial suture; males more commonly affected (4:1).

Ocular: Shallow orbits; proptosis; nystagmus; exotropia; aniridia; cataract; papilledema; optic atrophy; aniridia; dislocated lens.

Clinical: Long anteroposterior head diameter; short transverse diameter of the head; increased intracranial pressure; flat forehead with absent superciliary arches; prominent nose; mental retardation.

Geeraets WJ. Ocular Syndromes. 3rd ed. Philadelphia: Lea & Febiger, 1976.

Mangelschots K, et al. Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis. Hum Genet 1992; 89:407-413.

Mohan H, Sen DK, Gupta DK. Scaphocephaly, bilateral aniridia, and bilateral anterior polar cataract with posterior dislocation of the lens. Br J Ophthalmol 1971; 55:642.