Two Cases of Scimitar Syndrome Associated with Multiple Congenital Skeletal Anomalies and Lacking Abnormalities by Genomic Microarray Analysis

Scimitar syndrome is a congenital anomaly occurring in approximately 1/50 000 births, consisting of partial anomalous pulmonary venous return, right lung hypoplasia, and several associated defects. The condition generally has significant morbidity and mortality, but the underlying cause is poorly understood. In this report, we describe 2 autopsy cases of Scimitar syndrome associated with multiple skeletal anomalies and attempt to characterize possible genetic abnormalities in this condition. In light of these findings, we discuss the embryology and direct timing during development of the anomalies associated with this syndrome.

[1]  P. Backeljauw,et al.  Partial anomalous pulmonary venous return is common in Turner syndrome , 2012, Journal of pediatric endocrinology & metabolism : JPEM.

[2]  N. Koksal,et al.  Scimitar Syndrome with Renal Agenesis , 2012, North American journal of medical sciences.

[3]  V. Vida.  The scimitar syndrome , 2012 .

[4]  B. Onan,et al.  Scimitar Syndrome: A Complex Form of Anomalous Pulmonary Venous Return , 2011, Journal of cardiac surgery.

[5]  Robert H. Anderson,et al.  The bronchopulmonary foregut malformation complex , 2006, Cardiology in the Young.

[6]  John W. Brown,et al.  Scimitar syndrome. , 2006, Seminars in thoracic and cardiovascular surgery. Pediatric cardiac surgery annual.

[7]  John W. Brown,et al.  Scimitar syndrome. , 2006, Seminars in thoracic and cardiovascular surgery. Pediatric cardiac surgery annual.

[8]  L. Sargent,et al.  Mosaic ring 12p and total anomalous pulmonary venous return , 2004, American journal of medical genetics. Part A.

[9]  Robert H. Anderson,et al.  Development and structure of the atrial septum , 2002, Heart.

[10]  F. Al-Fadley,et al.  Tetralogy of Fallot associated with scimitar syndrome , 2000, Cardiology in the Young.

[11]  C. Canter,et al.  Scimitar syndrome presenting in infancy. , 1999, The Annals of thoracic surgery.

[12]  W. Williams,et al.  Scimitar syndrome: twenty years' experience and results of repair. , 1996, The Journal of thoracic and cardiovascular surgery.

[13]  R. Rowe,et al.  An increased incidence of total anomalous pulmonary venous drainage among aboriginal Canadians. , 1996, The Canadian journal of cardiology.

[14]  C. Liau,et al.  Anomalous Origin of Left Circumflex Artery in a Scimitar Syndrome , 1995, Angiology.

[15]  M. Trinca,et al.  [Familial scimitar syndrome]. , 1993, Archives des maladies du coeur et des vaisseaux.

[16]  G. Helmius,et al.  The "adult" form of the scimitar syndrome. , 1992, The American journal of cardiology.

[17]  K. L. Moore,et al.  The developing human , 1988 .

[18]  D. Benson,et al.  The early origin of vertebral anomalies, as illustrated by a 'butterfly vertebra'. , 1986, Journal of anatomy.

[19]  D. Sabiston,et al.  The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage "scimitar syndrome". , 1960, Bulletin of the Johns Hopkins Hospital.