Braddock syndrome: Difference between revisions
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Braddock syndrome is characterised by the association of VACTERL-like defects, pulmonary hypertension, abnormal ears, blue sclerae, laryngeal webs, and persistent growth deficiency. Patients show normal intellect, no tracheo-oesophageal fistula, and no anal atresia. This new syndrome has been described in one sibship. Inheritance is probably autosomal recessive. Vital prognosis depends on cardiac and pulmonary function.<ref>http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10685&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=52047&Maladie%28s%29/groupes%20de%20maladies=Syndrome-de-Vater-like---hypertension-pulmonaire---anomalies-des-oreilles---retard-de-croissance&title=Syndrome-de-Vater-like---hypertension-pulmonaire---anomalies-des-oreilles---retard-de-croissance&search=Disease_Search_Simple</ref> | Braddock syndrome is characterised by the association of VACTERL-like defects, pulmonary hypertension, abnormal ears, blue sclerae, laryngeal webs, and persistent growth deficiency. Patients show normal intellect, no tracheo-oesophageal fistula, and no anal atresia. This new syndrome has been described in one sibship. Inheritance is probably autosomal recessive. Vital prognosis depends on cardiac and pulmonary function.<ref>http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10685&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=52047&Maladie%28s%29/groupes%20de%20maladies=Syndrome-de-Vater-like---hypertension-pulmonaire---anomalies-des-oreilles---retard-de-croissance&title=Syndrome-de-Vater-like---hypertension-pulmonaire---anomalies-des-oreilles---retard-de-croissance&search=Disease_Search_Simple</ref> |
Revision as of 12:24, 5 October 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency.
Overview
Braddock syndrome is characterised by the association of VACTERL-like defects, pulmonary hypertension, abnormal ears, blue sclerae, laryngeal webs, and persistent growth deficiency. Patients show normal intellect, no tracheo-oesophageal fistula, and no anal atresia. This new syndrome has been described in one sibship. Inheritance is probably autosomal recessive. Vital prognosis depends on cardiac and pulmonary function.[1]
References
- ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10685&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=52047&Maladie%28s%29/groupes%20de%20maladies=Syndrome-de-Vater-like---hypertension-pulmonaire---anomalies-des-oreilles---retard-de-croissance&title=Syndrome-de-Vater-like---hypertension-pulmonaire---anomalies-des-oreilles---retard-de-croissance&search=Disease_Search_Simple