Predictive value of minor anomalies. I. Association with major malformations |
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| Authors: | K A Leppig M M Werler C I Cann C A Cook L B Holmes |
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| Affiliation: | 1. Embryology-Teratology Unit, Children''s Service, Massachusetts General Hospital, Boston USA;2. Department of Newborn Medicine, Brigham and Women''s Hospital, Boston USA;3. Department of Pediatrics, Havard Medical School, Boston USA;1. Service de chirurgie craniomaxillofaciale et stomatologie, hôpital Trousseau, CHU de Tours, 37000 Tours, France;2. Université François-Rabelais, 37000 Tours, France;1. Institute of Psychiatry, Psychology & Neuroscience, King''s College London, Department of Psychology, London SE5 8AF, UK;1. Medical Biology Research Center (MBRC), Kermanshah University of Medical Sciences, Kermanshah, Iran;2. Department of Anatomical Sciences & Cell Biology, Kermanshah University of Medical Sciences, Kermanshah, Iran;3. Department of Biology, Faculty of Sciences, Razi University, Kermanshah, Iran;4. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran;5. Department of Biochemistry, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran;1. Institut de Myologie, UPMC Université, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France;2. AP-HP Service de Pédiatrie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France;3. AP-HP Département de génétique, UF de génétique clinique, Hôpital Robert Debré, Paris, France;4. Sorbonne Universités UPMC Univ Paris 06 UM76, Centre de Recherche en Myologie, Institut de Myologie, Paris, France;5. Inserm, U974, Paris, France;6. CNRS FRE 3617, Paris, France;7. AP-HP UF Cardiogénétique et Myogénétique, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France;8. AP-HP Service de Radiologie, Groupe Hospitalier Universitaire Paris Ile-de-France Ouest, Hôpital Raymond Poincaré, Garches, Université Versailles UVSQ, France;9. AP-HP Département de Génétique, UF de Génétique Moléculaire, Hôpital Robert Debré, Paris, France;1. Renewable Energy Department, CIEMAT, Avd. Complutense 40, Madrid 28040, Spain;2. Chemistry Division, CIEMAT, Avd. Complutense 40, Madrid 28040, Spain;3. Electronics and Semiconductors Group, Applied Physics Department, Universidad Autónoma de Madrid, Avda. Francisco Tomás y Valiente 7, Madrid 28049, Spain;4. EPS (GRIFO), Alcala University, Madrid 28871, Spain;5. Instituto de Ciencia de Materiales de Madrid (ICMM). Consejo Superior de Investigaciones Científicas (CSIC), Sor Juana Inés de la Cruz, Madrid 28049, Spain |
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| Abstract: | We examined 4305 white newborn infants for 114 minor physical features and major malformations to evaluate the hypothesis that the presence of three or more minor anomalies is highly predictive of a major malformation. We confirmed that the infant with three or more minor anomalies is at increased risk for a major malformation. However, this risk (19.6%) was much lower than the risk of 90% popularized by Smith and based on the study of Marden et al. (J Pediatr 1964;64:357). Analysis of the findings in the two studies showed that the lower predictive value was probably related to differences in study design. Nevertheless, some minor anomalies remain essential to the early recognition of several serious malformation syndromes. |
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