Associated anomalies in cases with anotia and microtia.
Infants with anotia and microtia (AM) often have other non-AM associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in infants with AM were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 146 cases with AM registered during this period, representing a prevalence of 3.77 per 10,000, 49.3% had associated anomalies. There were 14 (9.6%) cases with chromosomal abnormalities including 5 trisomies 18, and 18 (12.3%) nonchromosomal recognized dysmorphic conditions including 6 cases with oculo-auriculo-vertebral spectrum. However, numerous other recognized dysmorphic conditions were registered. Forty (27.4%) of the cases had multiple congenital anomalies (MCA). Anomalies especially in the cardiovascular, the musculoskeletal, the urogenital, the central nervous, and the digestive systems, and facial clefts were the most common other anomalies. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, which was one in every two cases, emphasizes the need for a thorough investigation of cases with AM. A routine screening for other anomalies may be considered in infants and in fetuses with AM.
Laboratoire de Genetique Medicale, 11 rue Humann, Faculte de Medecine, 67085 Strasbourg Cedex, France. Electronic address: cstoll@unistra.fr.
Claude
C
Stoll
Laboratoire de Genetique Medicale, 11 rue Humann, Faculte de Medecine, 67085 Strasbourg Cedex, France.
Yves
Y
Alembik
Laboratoire de Genetique Medicale, 11 rue Humann, Faculte de Medecine, 67085 Strasbourg Cedex, France.
Beatrice
B
Dott
Laboratoire de Genetique Medicale, 11 rue Humann, Faculte de Medecine, 67085 Strasbourg Cedex, France.
Marie-Paule
MP
Roth
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D065817:Congenital Microtia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005333:Fetus; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics
Anotia; Birth defects; Epidemiology; Microtia; Multiple congenital anomalies