RESUMO
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.
Assuntos
Anormalidades Múltiplas/embriologia , Anoftalmia/embriologia , Região Branquial/patologia , Anormalidades Múltiplas/patologia , Coloboma/embriologia , Orelha/anormalidades , Orelha/embriologia , Humanos , Lactente , Iris/anormalidades , Iris/embriologia , Anormalidades Maxilomandibulares/embriologia , Masculino , Órbita/anormalidades , Órbita/embriologia , Coluna Vertebral/anormalidades , Coluna Vertebral/embriologia , Síndrome , Tetralogia de Fallot/embriologiaRESUMO
A young man of 17 years presented with bilateral reduced vision because of cataracts. Investigations showed a low level of serum calcium along with other evidence of renal failure. The cataracts were mainly in the posterior pole (cupulliform); faint peripheral cortical opacities were also present--in the form of about a dozen half-loops straddling the equator and extending about half way towards the axial centre of the lens.
