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DiGeorge Syndrome / 22q11.2 Deletion Syndrome / CATCH 22 Syndrome

Latest Publications and Research on DiGeorge Syndrome


Ann. Otol. Rhinol. Laryngol.   2020 Jan 31   

Adult Aortotracheal Fistula as Sequela of Double Aortic Arch Repair in Infancy: A Case Report.

Rees AB, Rodney JP, Gilbert MR, Kaiser CA, Gelbard AH

Double aortic arch is a rare congenital malformation of the aortic arch that most frequently presents in childhood. Early surgical intervention typica ... Read More

Source: PubMed
Arch Argent Pediatr      

Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome.

Méndez-Rosado LA, García D, Molina-Gamboa O, García A, de León N, Lantigua-Cruz A, Liehr T

The wide range of chromosome aberrations seen in neurodevelopmental disorders may not always be characterized by means of a chromosome analysis. The o ... Read More

Source: PubMed
Cleft Palate Craniofac. J.   2020 Jan 24   

Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.

Lee A, Chang BL, Solot C, Crowley TB, Vemulapalli V, McDonald-McGinn DM, Maguire MA, Mason TBA, Elden L, Cielo CM, Jackson OA

To determine pre- and postoperative prevalence of obstructive sleep apnea (OSA) in patients with 22q11.2 deletion syndrome (DS) undergoing wide poster ... Read More

Source: PubMed
Spine J   2020 Jan 17   

The Role of 22q11.2 Deletion Syndrome in the Relationship between Congenital Heart Disease and Scoliosis.

Homans JF, de Reuver S, Heung T, Silversides CK, Oechslin EN, Houben ML, McDonald-McGinn DM, Kruyt MC, Castelein RM, Bassett AS

For over four decades, clinicians and researchers have suggested a relationship between congenital heart disease (CHD) and scoliosis, attributed to ei ... Read More

Source: PubMed
Semin. Thorac. Cardiovasc. Surg.   2020 Jan 17   

Surgical repair of peripheral pulmonary artery stenosis in patients without williams or alagille syndromes.

Martin E, Mainwaring RD, Collins RT, MacMillen KL, Hanley FL

Peripheral pulmonary artery stenosis (PPAS) is a relatively rare form of congenital heart disease typically associated with genetic syndromes, such as ... Read More

Source: PubMed
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