Associated malformations among infants with anophthalmia and microphthalmia.

Abstract

BACKGROUND:

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies.

METHODS:

The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births.

RESULTS:

Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions.

CONCLUSIONS:

The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted.

• Authors: Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth
• Journal: Birth defects research. Part A, Clinical and molecular teratology (Birth Defects Res A Clin Mol Teratol) Vol. 94 Issue 3 Pg. 147-52 (Mar 2012) ISSN: 1542-0760 [Electronic] United States
• PMID: 22246853 (Publication Type: Journal Article)
• Copyright: Copyright © 2012 Wiley Periodicals, Inc.

Topics

• Abnormalities, Multiple (diagnosis, epidemiology)
• Amniotic Band Syndrome (diagnosis, epidemiology)
• Anal Canal (abnormalities)
• Anophthalmos (epidemiology)
• CHARGE Syndrome (diagnosis, epidemiology)
• Chromosome Disorders (diagnosis, epidemiology)
• Chromosomes, Human, Pair 13
• Ciliary Motility Disorders (diagnosis, epidemiology)
• Congenital Abnormalities (diagnosis, epidemiology)
• Encephalocele (diagnosis, epidemiology)
• Esophagus (abnormalities)
• France (epidemiology)
• Heart Defects, Congenital (diagnosis, epidemiology)
• Humans
• Infant
• Kidney (abnormalities)
• Limb Deformities, Congenital (diagnosis, epidemiology)
• Microphthalmos (epidemiology)
• Polycystic Kidney Diseases (diagnosis, epidemiology)
• Prevalence
• Retinitis Pigmentosa
• Spine (abnormalities)
• Trachea (abnormalities)
• Trisomy
• Trisomy 13 Syndrome