title: 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.affiliation: Laboratoire de Genetique Medicale, Strasbourg, France. cstoll@unistra.fr
authors.forename: Claude
authors.initials: C
authors.lastname: Stoll
authors.forename: Beatrice
authors.initials: B
authors.lastname: Dott
authors.forename: Yves
authors.initials: Y
authors.lastname: Alembik
authors.forename: Marie-Paule
authors.initials: MP
authors.lastname: Roth
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology*; D000652:Amniotic Band Syndrome / Q000175:diagnosis / Q000453:epidemiology; D001003:Anal Canal / Q000002:abnormalities; D000853:Anophthalmos / Q000453:epidemiology*; D058747:CHARGE Syndrome / Q000175:diagnosis / Q000453:epidemiology; D025063:Chromosome Disorders / Q000175:diagnosis / Q000453:epidemiology*; D002882:Chromosomes, Human, Pair 13; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology*; D004677:Encephalocele / Q000175:diagnosis / Q000453:epidemiology; D004947:Esophagus / Q000002:abnormalities; D005602:France / Q000453:epidemiology; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000453:epidemiology; D008850:Microphthalmos / Q000453:epidemiology*; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000453:epidemiology; D015995:Prevalence; D012174:Retinitis Pigmentosa; D013131:Spine / Q000002:abnormalities; D014132:Trachea / Q000002:abnormalities; D014314:Trisomy; D000073839:Trisomy 13 Syndrome