[Möbius syndrome and bilateral chorioretinal coloboma].
A child with palsy of the right facial nerve and bilateral palsy of the VIth, IXth and XIIth cranial nerves, dysfunction of the VIIIth cranial nerve, facial malformations and bilateral equinovarus was diagnosed on the basis of these features as having Moebius syndrome. Ocular studies disclosed congenital cataract and chorioretinal coloboma in both eyes. These ocular abnormalities have not previously been described in Moebius syndrome. This paper discusses whether the coexistence of these two types of anomalies may be due to occurrence of a break in the primitive internal carotid and trigeminal arteries between the fourth and fifth postconceptional weeks, causing maldevelopment of the choriocapillary and impairing neuron differentiation in cranial nerve nuclei.
Huerva
V
V
Service d'Ophtalmologie, Hôpital Clinique Universitaire, Zaragoza, Espagne.
Ascaso
F J
FJ
Palomar
M T
MT
Garcia
J
J
Olivares
J L
JL
Gabas
M
M
Palomar
A
A
D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications*; D005158:Facial Paralysis / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009886:Ophthalmoplegia / Q000150:complications*; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome
Syndrome de Möbius et colobome choriorétinien bilatéral.