welcome to oneEDSvoice
- a positively charged Ehlers Danlos Syndrome community.- join today!
- login
Family Study of the Inheritance of Pectus Excavatum
source: Journal of Pediatric Surgery
year: 2006
authors: Creswick HA, Stacey MW, Kelly RE Jr, Gustin T, Nuss D, Harvey H, Goretsky MJ, Vasser E, Welch JC, Mitchell K, Proud VK
summary/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.
PURPOSE:
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.
DOI: 10.1016/j.jpedsurg.2006.05.071
read more full text source
expertly curated content related to this topic
-
Positional Magnetic Resonance Imaging for People with Ehlers-Danlos Syndrome or Suspected Craniovertebral or Cervica...Given the current absence of evidence fo...
-
Understanding Patellofemoral Pain with Maltracking in the Presence of Joint Laxity: Complete 3D in Vivo Patellofemor...Patellofemoral pain is widely accepted a...
-
Jeannie Di Bon, MA, PMA-CPTJeannie Di Bon is a Pilates and rehabili...
-
Harry C. Dietz, III, MDDr. Harry “Hal” Dietz is a Professor...
-
Brad T Tinkle, MD PhDPresident & CEO at Dr. Brad T Tinkle...
-
Melissa L. DickinsonI work with individuals, couples, and fa...
-
Patrick S. Agnew, DPMDr. Patrick S. Agnew is a Podiatrist (fo...