Delleman-Oorthuys, syndrome

[MIM 164 180]

(Oculo-cerebro-cutaneous syndrome,  Leichtman-Wood-Rohn syndrome)

Male predominance. 

Association of the following anomalies:

-         ocular: unilateral anophthalmia with or without an orbital cyst, palpebral coloboma

-         cutaneous: supernumerary skin appendages in the periorbital regions, areas offocal dermal hypoplasia

-        hamartoma in muscles

-          cerebral: agenesis of the corpus callosum, epilepsy, sometimes hydrocephalus

-         facial: sometimes cleft palate. or other facial cleft


Anesthetic implications: 

Epilepsy. 


References : 

-        Sadhasivam S, Subramamiam R. 
Delleman syndrome: anesthetic implications. 
Anesth Analg 1998; 87: 553-5.


Updated: August 2019