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Velocardiofacial Syndrome Presenting as Hypocalcemia in Early Adolescence

Karen Salvesen Sykes, MD; Laura K. Bachrach, MD; Jacqueline Siegel-Bartelt, MD; Moshe Ipp, MBBCh; Sang Whay Kooh, MD; Cheryl Cytrynbaum, MS
Arch Pediatr Adolesc Med. 1997;151(7):745-747. doi:10.1001/archpedi.1997.02170440107021.
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Chromosome 22q1 1.2 microdeletion was reported in 19921-3 to be the common underlying cause of a spectrum of anomalies previously described as DiGeorge or velocardiofacial syndrome and occurring in children. DiGeorge syndrome occurs in infancy and is accompanied by hypocalcemia caused by hypoparathyroidism and thymic dysplasia. Velocardiofacial syndrome typically presents later in childhood, with hypernasal speech resulting from cleft palate, submucous cleft palate, or velopharyngeal insufficiency. Both conditions have clinical overlap, including conotruncal heart defects and mildly dysmorphic facies. The acronym CATCH 22 (cardiac defect, abnormal facies, thymus hypoplasia, cleft palate, hypocalcemia and chromosome 22 microdeletion) was proposed as being inclusive of both phenotypes.

We describe 3 children with symptomatic hypocalcemia in adolescence, an unusual age of presentation. Each child was subsequently identified to have chromosome 22q1 1.2 microdeletion as the cause of the late-onset hypoparathyroidism. The cases demonstrate the variable, and sometimes subtle,


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