Dysmorphic Face (Facies)

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see upward slant of palpebral fissures and epicanthic folds.

PERSPECTIVE: Even some experienced pediatricians were not sure about this child being an instance of Down syndrome (DS). The fact that this patient DID NOT have neonatal hypotonia speaks strongly against the possibility of DS. This instance illustrates the need for a detailed general history and general examination before any hypothetical diagnosis is communicated to the parents. Once DS is mentioned, it will become “imprinted” in the parental psyche. Cytogenetic studies showed a different anomaly from trisomy 21 or its variants (see additional postings).

This patient has a cytogenetic anomaly that is associated with a higher CANCER RISK – see a related gallery.


Tags: dx13q-