TY - CHAP M1 - Book, Section TI - DiGeorge Syndrome A1 - Newton, Lisanne A1 - Schroer, Brian A2 - Usatine, Richard P. A2 - Sabella, Camille A2 - Smith, Mindy Ann A2 - Mayeaux, E.J. A2 - Chumley, Heidi S. A2 - Appachi, Elumalai PY - 2015 T2 - The Color Atlas of Pediatrics AB - A newborn infant is noted to have micrognathia, a bulbous nasal tip, a crumpled ear helix (Figure 216-1), hooded eyes, a high arched palate, and a submucosal cleft palate. She was diagnosed prenatally with Tetralogy of Fallot. Tetany due to hypocalcemia is noted in the first 48 hours of life and requires treatment. A chest x-ray obtained is notable for absence of a thymic shadow (Figure 216-2). Immunologic laboratory data reveal CD3+ T cells are <500/mm3. Chromosomal analysis is sent and reveals a deletion of chromosome 22q11.2. She undergoes surgical repair of her heart lesion at one week of age, and requires close follow-up of her cardiac, immunological, and metabolic problems. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1114880369 ER -