Prevalence < 1/106.
Association of:
- congenital hydronephrosis,.
- severe intellectual deficit and growth retardation
- cleft palate.
- hypotonia
- a characteristic facial dysmorphism: midface hypoplasia, prominent eyes with epicanthus, long eyelashes, long philtrum, short and upturned nose with anteversed nostrils, low set ears
- webbed neck
Cardiac anomalies have been described: ASD, VSD, ductus arteriosus, aortic valve anomalies. One case of tethered cord.
Anesthetic implications:
echocardiography; risk of difficult mask ventilation and/or intubation
References :
- Markouri M, Karpathios T, Dinopoulos A, Attilakos A et al.
Okamoto syndrome in a girl of Caucasian origin.
Developmental Medicine & Child Neurology 2008 ; 50 : 250-2
- Wallerstein R., Rhoads F.
Natural history of a child with Okamoto syndrome.
Clinical Dysmorphology 2013 ; 22 :127-8
Updated: July 2019