Trisomy 8 Mosaicism (8+) Knees Hypertrophy Pseudo Larsen Syndrome

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see large hypertrophic knee articulations (joints) and hirsutism of emaciated legs.

PERSPECTIVE: Per se this illustration is insufficient to suggest a diagnosis although it does indicate alterations of the connective tissue and muscular atrophy. Only in the context of other concurrent signs it may become possible to forward a hypothesis of cause and mechanism (see our previous posting or visit the gallery concerning this patient).


Tags: ptTrisomy8