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.
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: Paul D Brady; Hilde Van Esch; Nathalie Fieremans; Guy Froyen; Anne Slavotinek; Jan Deprest; Koenraad Devriendt; Joris R Vermeesch Journal: Eur J Hum Genet Date: 2014-07-16 Impact factor: 4.246
Authors: Jeremy M Schraw; Renata H Benjamin; Daryl A Scott; Brian P Brooks; Robert B Hufnagel; Scott D McLean; Hope Northrup; Peter H Langlois; Mark A Canfield; Angela E Scheuerle; Christian P Schaaf; Joseph W Ray; Han Chen; Michael D Swartz; Laura E Mitchell; A J Agopian; Philip J Lupo Journal: Ophthalmic Epidemiol Date: 2020-12-20
Authors: Alessio Coi; Michele Santoro; Anna Pierini; Judith Rankin; Svetlana V Glinianaia; Joachim Tan; Abigail-Kate Reid; Ester Garne; Maria Loane; Joanne Given; Elisa Ballardini; Clara Cavero-Carbonell; Hermien E K de Walle; Miriam Gatt; Laura García-Villodre; Mika Gissler; Sue Jordan; Sonja Kiuru-Kuhlefelt; Stine Kjaer Urhoj; Kari Klungsøyr; Nathalie Lelong; L Renée Lutke; Amanda J Neville; Makan Rahshenas; Ieuan Scanlon; Diana Wellesley; Joan K Morris Journal: Orphanet J Rare Dis Date: 2022-03-29 Impact factor: 4.123
Authors: Ibrahim Abib Diomande; Abdoulaye Toure; Konan Virgile Koffi; Gossé François Diomande; Windinmanégdé Pierre Djiguimde; Nouraly Habib; Ahgbatouhabéba Ahnoux-Zabsonre Journal: Int Med Case Rep J Date: 2015-11-04