000			02409nam a22002537a 4500
999			_c10068 _d10068
003			CH20160001
005			20240720152920.0
008			170804b xxu||||| |||| 00| 0 eng d
040			_cFEU-NRMF MEDICAL LIBRARY
041			_aEnglish
050			_aCH20160001
100			_aAquino, Emery Anne S., MD. _eauthor
245			_a"Catch-ing digeorge at 22" _ba case report of a neonate considered with digeorge syndrome / _cEmery Anne S. Aquino.
260			_aFairview, Quezon City _bDepartment of Child Health, FEU-NRMF, _c2016
300			_c(in folder)
336			_atext _2rdacontent
337			_aunmediated _2rdamedia
338			_avolume _2rdacarrier
504			_aIncludes bibliographical references.
520			_aABSTRACT: DiGeorge syndrome is listed as a "rare disease" by the Office of Rare diseases of the National Institutes of Health. It is a well-defined primary immunodeficiency disorder andis characterized by congenital heart defect, palatal or ear anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities (22q11.2 Deletion syndrome article, Elaine H Zackai, MD, et al., 2013). Described is a 1-day old neonate presented with tachypnea, with subcostal and intercostals retractions and crackles on both lung fields consistent with Neonatal Pneumonia and with further evaluation and examination, was considered with DiGeorge Syndrome based on her congenital heart disease- VSD, ASD, PDA and interrupted aortic arch. Facial dysmorphisms described as high and bridge nose, short palpebral fissure, underdeveloped right pinna facial asymmetry when crying and persistent hypocalcemia were as well noted. However, during the course in the ward, patient had recurrent pneumonia with associated congenital heart disease in failure that lead to demise of the patient. Currently still awaiting for result of Fluorescence In-situ Hybridization for confirmation. This case emphasizes the important of early recognition of the deletion, so that the treatment of involved organ anomalies can be initiated, screening for associated malformations performed and prevention of neuropsychological problems be provided. A multidisciplinary approach is fundamental to ensure that the patient will be able to attain his or her maximal potential and genetic counselling be emphasized as well.
521			_aRESDCH
887			_2RC-RC-022-16
942			_2lcc _cTH