Bone Health

Search String "funnel chest"[majr] 900+ articles Nov 2006

Diseases Database Entry aka Oral-facial-digital syndrome type 3 aka/or Orofaciodigital syndrome type 3 or Sugarman Syndrome A syndrome of eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula, postaxial hexadactyly, pectus excavatum, short sternum, kyphosis, mental retardation, and ceaseless ("see-saw") winking of the eyelids occurring in one of the two sisters in the original report.

Background: Pectus excavatum, also known as sunken or funnel chest, is a congenital chest wall deformity in which several ribs and the sternum grow abnormally, producing a concave, or caved-in, appearance to the anterior chest wall. Image 1 illustrates the typical appearance of this deformity in a 16-year-old boy. The exact mechanism involved in this abnormal bone and cartilage overgrowth is not known, and, to date, no genetic defect is known that is directly responsible for the development of pectus excavatum. Despite the lack of an identifiable genetic marker, the familial occurrence of pectus deformity has been reported in 35% of cases. Moreover, the condition is well known to be associated with Marfan and Poland syndromes. Pectus excavatum is the most common type of congenital chest wall abnormality (90%), followed by pectus carinatum (5-7%), cleft sternum, pentalogy of Cantrell, asphyxiating thoracic dystrophy, and spondylothoracic dysplasia. Pectus excavatum occurs in an estimated 1 in 300-400 births, with male predominance (male-to-female ratio of 3:1). The condition is typically noticed at birth, and more than 90% of cases are diagnosed within the first year of life. Worsening of the appearance of the chest and the onset of symptoms are usually reported at the time of rapid bone growth in the early teenage years. Many patients are not brought to the attention of a pediatric surgeon until the time that such changes are noted by the patient and the family. The appearance of the chest can be very disturbing to young teenagers. Problems with self esteem and body image perception are frequently reported in teenagers. Psychologic disturbances are not unusual in older patients. Introduction Clinical Differentials Workup Treatment Medication Follow-up Miscellaneous Pictures Bibliography Author: Andre Hebra, MD, Clinical Associate Professor, Department of Surgery, University of South Florida School of Medicine

Using search string pectus excavatum more:for_health_professionals

Search string ("funnel chest"[TIAB] NOT Medline[SB]) OR "funnel chest"[MeSH Terms] OR pectus excavatum[Text Word] URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%28%22funnel%20chest%22%5BTIAB%5D%20NOT%20Medline%5BSB%5D%29%20OR%20%22funnel%20chest%22%5BMeSH%20Terms%5D%20OR%20pectus%20excavatum%5BText%20Word%5D 1519 articles Nov 2006

Diseases Database

Radiology case 478-1496