Hydrocephaly and Anophthalmia

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a disproportionally large head and a dysmorphic face including what may be an anophthalmia.

Please, note four additional images of this patient.

PERSPECTIVE: Anophthalmia – Microphthalmia, in particular when associated with other dysmorphic signs, generally are indicative of severe concurrent severe anomalies and if associated with extra-cephalic anomalies can be indicative of cytogenetic defects.

 

Tags: pt13q-