Minor anomalies: Can they predict specific major defects? A study based on 23 major and 14 minor anomalies in over 25,000 newborns with birth defects

American Journal of Perinatology

Volumn 31, Issue 6, 2014, Pages 447-454

  Campaña, Hebe ^a   Rittler, Monica ^b   Poletta, Fernando A ^c   Gili, Juan Antonio ^c   Pawluk, Mariela Soledad ^a   Scala, Sandra Constanza ^a   Camelo, Jorge Santiago López ^a,c  

^a Instituto Multidisciplinario de Biologia Celular   (Argentina)

^b UNIVERSIDAD DE BUENOS AIRES   (Argentina)

^c CEMIC   (Argentina)

Author keywords

associations; birth defects; epidemiology; minor anomalies; predictors

Indexed keywords

AGENESIS; ANENCEPHALUS; ANUS ATRESIA; ARTICLE; BIRTH DEFECT; BIRTH WEIGHT; CAVERNOUS HEMANGIOMA; CLEFT LIP; CLEFT LIP PALATE; CLEFT PALATE; CONTROLLED STUDY; DATA BASE; DIAGNOSTIC TEST ACCURACY STUDY; DIAPHRAGM HERNIA; DISEASE ASSOCIATION; DOWN SYNDROME; ENCEPHALOCELE; ESOPHAGUS ATRESIA; EXTERNAL EAR MALFORMATION; FEMALE; FIRST DEGREE RELATIVE; GASTROSCHISIS; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDROCELE; HYDROCEPHALUS; HYPOSPADIAS; INGUINAL HERNIA; LIMB REDUCTION DEFECT; MACROSOMIA; MAJOR CLINICAL STUDY; MALE; MEDICAL INFORMATION; MICROTIA; MULTIPLE MALFORMATION SYNDROME; NEONATAL TEETH; NEWBORN; NEWBORN DISEASE; NIPPLE MALFORMATION; OMPHALOCELE; PATENT DUCTUS ARTERIOSUS; PECTORALIS AGENESIS; PREAURICULAR TAGS; PREDICTIVE VALUE; PREDICTOR VARIABLE; PRIORITY JOURNAL; RISK FACTOR; SINGLE UMBILICAL ARTERY; SPINAL DYSRAPHISM; STILLBIRTH; SYNDACTYLY; TOOTH MALFORMATION; UMBILICAL HERNIA; ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CONGENITAL MICROTIA; DISORDERS OF SEX DEVELOPMENT; EXTERNAL EAR; FACTUAL DATABASE; FETAL MACROSOMIA; GENETICS; HERNIA, UMBILICAL; LIVE BIRTH; RISK; SOUTH AND CENTRAL AMERICA; UMBILICAL ARTERY;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CONGENITAL MICROTIA; DATABASES, FACTUAL; DISORDERS OF SEX DEVELOPMENT; EAR, EXTERNAL; FEMALE; FETAL MACROSOMIA; HERNIA, UMBILICAL; HUMANS; INFANT, NEWBORN; LATIN AMERICA; LIVE BIRTH; MALE; ODDS RATIO; PREDICTIVE VALUE OF TESTS; STILLBIRTH; UMBILICAL ARTERIES;

EID: 84901689748     PISSN: 07351631     EISSN: 10988785     Source Type: Journal    
DOI: 10.1055/s-0033-1351660     Document Type: Article

References (21)

1. Marden P. M., Smith D. W., McDonald M. J. Congenital Anomalies in the newborn infant, including minor variations. A study of 4,412 babies by surface examination for anomalies and buccal smear for sex chromatin. J Pediatr: 1964; 64 357 371
2. Merks J. H., van Karnebeek C. D., Caron H. N., Hennekam R. C. Phenotypic abnormalities: terminology and classification. Am J Med Genet A: 2003; 123A 3 211 230 (Pubitemid 37464338)
3. Méhes K., Mestyán J., Knoch V., Vincellér M. Minor malformations in the neonate. Helv Paediatr Acta: 1973; 28 5 477 483
4. Leppig K. A., Werler M. M., Cann C. I., Cook C. A., Holmes L. B. Predictive value of minor anomalies. I. Association with major malformations. J Pediatr: 1987; 110 4 531 537 (Pubitemid 17049037)
5. Holmes L. B., Kleiner B. C., Leppig K. A., Cann C. I., Muñoz A., Polk B. F. Predictive value of minor anomalies: II. Use in cohort studies to identify teratogens. Teratology: 1987; 36 3 291 297 (Pubitemid 18016552)
6. Waldrop M. F., Bell R. Q., McLaughlin B., Halverson C. F. Jr. Newborn minor physical anomalies predict short attention span, peer aggression, and impulsivity at age 3. Science: 1978; 199 4328 563 565 (Pubitemid 8298044)
7. Mu S. C., Lin C. H., Chen Y. L., Sung T. C., Bai C. H., Jow G. M. The perinatal outcomes of asymptomatic isolated single umbilical artery in full-term neonates. Pediatr Neonatol: 2008; 49 6 230 233
8. Meggyessy V., Méhes K. Association of supernumerary nipples with renal anomalies. J Pediatr: 1987; 111 3 412 413 (Pubitemid 17157516)
9. Castilla E. E., Orioli I. M. ECLAMC: the Latin-American collaborative study of congenital malformations. Community Genet: 2004; 7 2-3 76 94
10. Opitz J. M. Heterogeneity and minor anomalies. Am J Med Genet: 2000; 91 4 254 255 (Pubitemid 30191246)
11. Opitz J. M. Invited editorial comment: study of minor anomalies in childhood malignancy. Eur J Pediatr: 1985; 144 252 254 (Pubitemid 15024976)
12. Tsai F. J., Tsai C. H., Peng C. T., Wu J. Y., Lien C. H., Wang T. R. Different race, different face: minor anomalies in Chinese newborn infants. Acta Paediatr: 1999; 88 3 323 326
13. Rinehart B. K., Terrone D. A., Taylor C. W., Isler C. M., Larmon J. E., Roberts W. E. Single umbilical artery is associated with an increased incidence of structural and chromosomal anomalies and growth restriction. Am J Perinatol: 2000; 17 5 229 232
14. Pierce B. T., Dance V. D., Wagner R. K., Apodaca C. C., Nielsen P. E., Calhoun B. C. Perinatal outcome following fetal single umbilical artery diagnosis. J Matern Fetal Med: 2001; 10 1 59 63
15. Källén K., Robert E., Castilla E. E., Mastroiacovo P., Källén B. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). Am J Med Genet A: 2004; 127A 1 26 34 (Pubitemid 38937202)
16. Haratz K., Vinkler C., Lev D., Schreiber L., Malinger G. Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction. Fetal Diagn Ther: 2011; 30 4 309 313
17. Martínez-Frías M. L., Bermejo E., Rodríguez-Pinilla E., Prieto D. ECEMC Working Group Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants. Am J Med Genet A: 2008; 146A 1 15 25
18. Keogh I. J., Troulis M. J., Monroy A. A., Eavey R. D., Kaban L. B. Isolated microtia as a marker for unsuspected hemifacial microsomia. Arch Otolaryngol Head Neck Surg: 2007; 133 10 997 1001 (Pubitemid 47607581)
19. Gornall A. S., Kurinczuk J. J., Konje J. C. Antenatal detection of a single umbilical artery: does it matter? Prenat Diagn: 2003; 23 2 117 123 (Pubitemid 36245142)
20. Klockars T., Suutarla S., Kentala E., Ala-Mello S., Rautio J. Inheritance of microtia in the Finnish population. Int J Pediatr Otorhinolaryngol: 2007; 71 11 1783 1788 (Pubitemid 47569235)
21. Alasti F., Van Camp G. Genetics of microtia and associated syndromes. J Med Genet: 2009; 46 6 361 369