Trisomy 8 Mosaicism Face

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a facies and will dispense from listing signs except to point out:

  • The older the patient, the greater confounding acquired age-related additional signs (in this case probably the lack of teeth – adontia).
  • Overgrowth of the distal nose (its tip reaches the level of the oral opening).
  • Anti-mongoloid (downward) slant of the palpebral fissures.
  • Large mandible.

In the context of concurrent hypertrophied large joints the hypothesis that the growth pattern of the collagen containing tissues is disproportional. Apparently the patient was also mentally sub-normal. This led to cytogenetic studies which were amplified by a search for trisomy 8+ mosaicism (see previous posting or visit the gallery concerning this patient.


Tags: ptTrisomy8