A Case of Congenital Bilateral Anophthalmia
نویسنده
چکیده
منابع مشابه
A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families
Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members o...
متن کاملSEVERE FORM OF FRONTONASAL DYSPLASIA (FND) WITH BILATERAL ANOPHTHALMIA A Case Report with Review of Literature
Frontonasal Dysplasia (FND) is a rare disorder characterized by deformities of variable severity affecting the craniofacial region. FND with bilateral anophthalmia has not been reported yet in the literature. Maxillofacial surgery should be considered for all patients for whom improvement is possible. But in countries like Pakistan where there are considerable limitations in provision of social...
متن کاملBilateral Congenital Upper Eyelids Ectropion in Case of Bilateral Cleft Lip and Palate
Purpose: To report a case of bilateral congenital Ectropion and its management. Case Report: A newborn with bilateral congenital upper eyelid Ectropion and sign of exposure keratopathy associated with bilateral cleft lip and palate was referred and underwent full thickness skin graft of both upper eyelids. Ectropion was corrected and sign of exposure keratopathy improved. Conclusion: Congenital...
متن کاملCongenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24).
Congenital bilateral anophthalmia and microphthalmia are rare conditions, with overall prevalence in one study set at 1.0 per 10,000 births. We report here a case of congenital bilateral severe microphthalmia with mental retardation and cerebral palsy. The patient was man aged 38 years with a chromosome aberration, namely a balanced translocation: 46, XY, t (2;6)(q31;q24). He had no other malfo...
متن کاملCongenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation
OBJECTIVE To describe the prevalence of congenital anophthalmia and microphthalmia in Hospital Universitario La Paz, and to identify associated risk factors and evaluate cosmetic results in treated and nontreated patients. METHODS A retrospective, descriptive, cross-sectional study of patients treated with orbital expanding techniques (cases) and nontreated patients (controls) was carried out...
متن کامل