Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a tower-like cranium. This sign is sufficient to signal the likelihood that the pathogenesis of this cranial dysmorphology is due to a synostosis – furthermore, if so, the synostosis is likely to be due to a premature fusion of the coronal and other sutures. Diverse combinations of synostoses result in variety of altered cranial dysmorphology (oxycephaly, acrocephaly, …).

PERSPECTIVE: concurrent non-cranial anomalies signal a strong possibility of a syndrome, in particular those impacting connective tissues. Please see the gallery of images of this patient.

CREDIT: The images and clinical profile are mostly adapted from “Atlas of Mental Retardation Syndromes” by U.S. Department of Health, Education, and Welfare. 1968 (0-310-072 U.S. Government Printing Office), edited by S. S. Gellis, M.D. and M. Finegold, M.D.


Tags: dxApert, ptApert