title: [Children with limb reductions in a population of 25,193 malformed newborns: the recognized causes. ECEMC. The Spanish Collaborative Study of Congenital Malformations].
abstract: OBJECTIVE
  The purposes of this study were to analyze the causes of limb reduction deficiencies based on a clinical-epidemiological approach and to study the causes by clinical presentation.
  
  
  METHODS
  We have used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) during the period from 1976 to 1996, which corresponded to more than 1,300,000 births. Among these, we identified 851 liver-born and 40 stillborn infants with limb reduction defects.
  
  
  RESULTS
  We could identify the cause in 177 (19.87%) of the 891 cases with limb reduction defects. In the analysis by clinical presentation, in 52.19% of the cases the limb deficiencies were the only defect present in the children (isolated), 30.75% presented multiple congenital anomaly patterns, and 17.06% were syndromes. The most frequent etiology was the genetic one.
  
  
  CONCLUSIONS
  First, most of infants with limb deficiencies have unknown cause and these defects are most frequently isolated malformations. On the other hand, the results of this analysis permitted the following considerations in relation to the guidance for the diagnosis of infants with limb reduction defects. If the child presents with multiple congenital anomalies (multiply malformed infant) a chromosomal analysis should be performed and it should be determined if the infant was prenatally exposed to a teratogenic agent. If these two aspects are normal, we should clinically analyze if the infant could have a known syndrome. In addition, since in our data 10.32% of isolated cases were due to autosomal dominant genes, a detailed clinical analysis of close relatives should be done to determine if some of them present mild limb deficiencies in order to provide an adequate information to the family.
authors.affiliation: Facultad de Medicina, Universidad Complutense, Madrid.
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: E
authors.initials: E
authors.lastname: Bermejo
authors.forename: L
authors.initials: L
authors.lastname: Paisán
authors.forename: M
authors.initials: M
authors.lastname: Blanco
authors.forename: V
authors.initials: V
authors.lastname: Félix
authors.forename: J
authors.initials: J
authors.lastname: Egüés
authors.forename: F
authors.initials: F
authors.lastname: Hernández
authors.forename: M
authors.initials: M
authors.lastname: Martín
authors.forename: S
authors.initials: S
authors.lastname: Martínez
authors.forename: A
authors.initials: A
authors.lastname: Ayala
authors.forename: P
authors.initials: P
authors.lastname: Aparicio
authors.forename: E
authors.initials: E
authors.lastname: Rodríguez-Pinilla
mesh_terms: D001132:Arm / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000209:etiology*; D005313:Fetal Death / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*; D013030:Spain / Q000453:epidemiology; D013577:Syndrome
vernacular_title: Niños con reducción de extremidades en una población de 25.193 recién nacidos malformados: causas reconocidas. ECEMC. Estudio Colaborativo Español de Malformaciones Congénitas.