Anophthalmos and first branchial arch defects.
The association of unilateral mandibulofacial dysostosis and anophthalmos at the same side is reported. The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye. This case shows the maximal effect of the abnormal development of the first branchial arch (the mandible, maxilla, and ears) on the globe and the orbit. The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981. This supports the concept that abnormal development of the mandible may influence the development of the orbit and the globe. The extent of the influence of the abnormal developing first branchial arch on the eye is discussed.
D000015:Abnormalities, Multiple / Q000196:embryology* / Q000473:pathology; D000853:Anophthalmos / Q000196:embryology*; D001934:Branchial Region / Q000473:pathology*; D003103:Coloboma / Q000196:embryology; D004423:Ear / Q000002:abnormalities / Q000196:embryology; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities / Q000196:embryology; D007569:Jaw Abnormalities / Q000196:embryology; D008297:Male; D009915:Orbit / Q000002:abnormalities / Q000196:embryology; D013131:Spine / Q000002:abnormalities / Q000196:embryology; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000196:embryology