title: [Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics].
abstract: BACKGROUND
  We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population.
  
  
  METHODS
  In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996.
  
  
  RESULTS
  The minimum estimation of the prevalence in our population is 0.97 per 100,000 live births. We have epidemiologically confirmed the presence of intrauterine growth retardation and have observed that parental ages tend to be relatively young. We have observed a wide range of clinical expression of this syndrome. One hundred percent of our cases have limb reduction defects, followed in frequency by craniofacial alterations (84.62%), abnormal hair distribution (76.92%) and genital defects (69.23%). Upper limbs are predominantly affected and one case of diaphragmatic hernia is worth mentioning. We underline the importance of the differential diagnosis with Fryns'syndrome.
  
  
  CONCLUSIONS
  The cases studied correspond to the most severe form of the syndrome, reason for which the prevalence is a minimal estimate. However, the mild forms of the syndrome are more frequent and it is important to consider that the face, especially the form of the eyebrow, could be a good guide for the diagnosis of mild forms of the syndrome.
authors.affiliation: ECEMC y Departamento de Farmacología, 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: V
authors.initials: V
authors.lastname: Félix
authors.forename: N
authors.initials: N
authors.lastname: Jiménez
authors.forename: J
authors.initials: J
authors.lastname: Gómez-Ullate
authors.forename: J A
authors.initials: JA
authors.lastname: López
authors.forename: P
authors.initials: P
authors.lastname: Aparicio
authors.forename: A
authors.initials: A
authors.lastname: Ayala
authors.forename: J M
authors.initials: JM
authors.lastname: Gairi
authors.forename: E
authors.initials: E
authors.lastname: Galán
authors.forename: M E
authors.initials: ME
authors.lastname: Suárez
authors.forename: A
authors.initials: A
authors.lastname: Peñas
authors.forename: J M
authors.initials: JM
authors.lastname: de Tapia
authors.forename: C
authors.initials: C
authors.lastname: Nieto
authors.forename: E
authors.initials: E
authors.lastname: de la Serna
mesh_terms: D003635:De Lange Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015995:Prevalence; D013030:Spain / Q000453:epidemiology
vernacular_title: Síndrome de Brachmann de Lange en nuestro medio: características clínicas y epidemiológicas.