title: [Clinical, radiological and auxologic long-term evolution of 8 children with asphyxiating thoracic dysplasia].
abstract: Asphyxiating thoracic dysplasia is an uncommon condition with multiple organ affectation and high neonatal mortality. It presents with short stature, short extremities, narrow thorax. With growth, there is respiratory improvement, but emergence of renal, hepatic, pancreatic and/or retinal impairment.
  
  
  OBJECTIVE
  to describe the long-term evolution of 8 patients of a pediatric hospital.
  
  
  METHODS
  we retrospectively evaluated age at diagnosis, sex, anthropometric variables, complications and radiology.
  
  
  RESULTS
  male/female 6/2. Median age at diagnosis: 2.54 years.
  
  
  RESULTS
  8/8 respiratory compromise, 3/8 kidney, liver 2/8, 1/8 ophthalmologic, cardiac 1/8. Median height at diagnosis -1.76 DS, normal postnatal growth and body proportions. Radiology: 8/8 narrow chest and brachyphalangia in hands. 5/8 acetabular abnormalities.
  
  
  CONCLUSIONS
  for surveillance it is recommended to monitor renal, liver and eye function. The pediatrician should suspect this entity in a newborn with narrow thorax and respiratory distress.
authors.affiliation: Servicio de Crecimiento y Desarrollo, Hospital Dr. Prof. Juan P. Garrahan.
authors.forename: Rosario
authors.initials: R
authors.lastname: Ramos Mejía
authors.affiliation: Servicio de Crecimiento y Desarrollo, Hospital Dr. Prof. Juan P. Garrahan.
authors.forename: Mariana
authors.initials: M
authors.lastname: del Pino
authors.affiliation: Servicio de Genética, Hospital Dr. Prof. Juan P. Garrahan.
authors.forename: María G
authors.initials: MG
authors.lastname: Obregón
authors.affiliation: Servicio de Crecimiento y Desarrollo, Hospital Dr. Prof. Juan P. Garrahan.
authors.forename: Virginia
authors.initials: V
authors.lastname: Fano
mesh_terms: D002675:Child, Preschool; D004613:Ellis-Van Creveld Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D013909:Thorax / Q000000981:diagnostic imaging / Q000473:pathology*