title: Family study of the inheritance of pectus excavatum.
abstract: BACKGROUND
  The most common congenital deformity of the chest wall is pectus excavatum, a malformation that is present in between 1 in 400 and 1 in 1000 live births and causes the body of the sternum to be displaced, producing a depression. There are many different shapes of the pectus, and multiple factors probably contribute to the final form. The etiology of pectus excavatum is uncertain, but a familial tendency has been found in clinical experience, where it may be seen in more than one sibling. Pectus excavatum is commonly associated with connective tissue disorders such as Marfan and Ehlers Danlos syndromes. Extensive literature review failed to identify articles documenting families with multiple affected members.
  
  
  OBJECTIVE
  The purpose of this study was to collect evidence that pectus excavatum is familial and may be an inherited disorder.
  
  
  METHODS
  Using the Children's Surgical Specialty Group database at Children's Hospital of The King's Daughters, families with more than one affected individual were selected. With Institutional Review Board-approved informed consent, 34 families agreed to participate. Family histories were obtained, and a 4-generation pedigree was constructed for each family. Forty questions were asked about each individual's medical history, and comprehensive systems review included features of connective tissue-related problems. Inheritance patterns for each family were determined by pedigree analysis.
  
  
  RESULTS
  A total of 14 families suggested autosomal dominant inheritance, 4 families suggested autosomal recessive inheritance, and 6 families suggested X-linked recessive inheritance. Ten families had complex inheritance patterns. Pectus excavatum occurred more frequently in males than in females (1.8:1). Long arms, legs, and fingers; high-arched palate; mitral valve prolapse; heart arrhythmia; scoliosis; double jointedness; flexibility; flat feet; childhood myopia; poor healing; and easy bruising were commonly associated with pectus excavatum.
  
  
  CONCLUSIONS
  Pedigree analysis of 34 families provides evidence that pectus excavatum is an inherited disorder, possibly of connective tissue. Although some families demonstrate apparent Mendelian inheritance, most appear to be multifactorial.
authors.affiliation: Division of Medical Genetics and Metabolism, Department of Pediatrics, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA. creswiha@chkd.org
authors.forename: Heather A
authors.initials: HA
authors.lastname: Creswick
authors.forename: Michael W
authors.initials: MW
authors.lastname: Stacey
authors.forename: Robert E
authors.initials: RE
authors.lastname: Kelly
authors.forename: Tina
authors.initials: T
authors.lastname: Gustin
authors.forename: Donald
authors.initials: D
authors.lastname: Nuss
authors.forename: Helen
authors.initials: H
authors.lastname: Harvey
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Goretsky
authors.forename: Ellen
authors.initials: E
authors.lastname: Vasser
authors.forename: J Camille
authors.initials: JC
authors.lastname: Welch
authors.forename: Karen
authors.initials: K
authors.lastname: Mitchell
authors.forename: Virginia K
authors.initials: VK
authors.lastname: Proud
mesh_terms: D005260:Female; D005660:Funnel Chest / Q000150:complications / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D050172:Genes, X-Linked; D006801:Humans; D008297:Male; D010375:Pedigree