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.
