Clinical Characterization of Congenital Anophthalmic and Microphthalmic Cavities in Inidviduals With Craniofacial Anomalies

Author:

Parizotto Paula Isabella1,Gonçalves Paula Raul1,Kokitsu Nancy Mizue1,Alonso Nivaldo2,Tonello Cristiano3

Affiliation:

1. Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo

2. Craniofacial Surgeon of Hospital for Rehabilitation of Craniofacial Anomalies and Hospital of Clinics of Medicine Faculty. Professor of Medicine, University of São Paulo

3. Craniofacial Surgeon of the Hospital for Rehabilitation of Craniofacial Anomalies and Professor of Medicine. University of São Paulo, Bauru, SP, Brazil

Abstract

Objective: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). Design: Descriptive, cross-sectional, retrospective study. Setting: Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of congenital anophthalmia or microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. Outcome Measures: Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. Results: A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients (P < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only 7 records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. Conclusion: Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,Otorhinolaryngology,Surgery

Reference19 articles.

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