Other disorders to be considered in a case of congenital eyelid coloboma include Franceschetti Syndrome, Oculoauricular dysplasia (Goldenhar syndrome)3, Amniotic band syndrome, Cryptophthalmos (Fraser syndrome)4,5 and Manitoba Oculotrichoanal (MOTA) syndrome6.
A case review of upper eyelid coloboma4 with or without cryptophthalmos included 26 children.
FS is a very rare autosomal recessive multisystem disorder [Francannet et al., 1990) which was first described by George Fraser in 1962 [Fraser, 1962], who described the main characteristics as cryptophthalmos (fused upper and lower eyelids), syndactyly and genital abnormalities.
She had several features of FS: cryptophthalmos and anophthalmia with facial asymmetry (Fig.
According to Bochkov (1997) 10% of the causes of NTDs are monogenic or chromosomal abnormalities, the most frequent of which - trisomies 18, 13 and 21, syndromes of Meckel-Gruber, Walker-Warburg, cryptophthalmos
, Roberts and etc..
(1-5) In cockatiels, complete fusion of the eyelids or narrowing of the palpebral fissure can develop secondary to such causes as cryptophthalmos (1) or ankyloblepharon.
Developmental eyelid malformations, such as cryptophthalmos, have been reported in cockatiels.
Both the techniques demonstrated the bulbar lesions in two cases of Cryptophthalmos, which had congenital cystic eyeball (Image 3a &b).
Axial scan CT and USG image of child with Cryptophthalmos showing features of a cyst with poor differentiation of globe.
It is usually associated with acrofacial and urogenital malformations with or without cryptophthalmos, positive family history, umbilical hernia and bilobed lungs.
--Bilateral cryptophthalmos (where the eyelids fail to separate in each eye)
ASSOCIATED ANOMALIES: The most frequently associated syndrome observed with CHAOS is Fraser syndrome which is characterized by malformations of the larynx, cryptophthalmos
, syndactyly, genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies.