This Article  • References  • Full text PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Karen Salvesen Sykes, MD; Laura K. Bachrach, MD
Division of Pediatric Endocrinology Stanford University Medical School Room S-302 Stanford, CA 94305-5119

Jacqueline Siegel-Bartelt, MD; Moshe Ipp, MBBCh; Sang Whay Kooh, MD; Cheryl Cytrynbaum, MS
Toronto, Ontario

Arch Pediatr Adolesc Med. 1997;151(7):745-747.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Chromosome 22q1 1.2 microdeletion was reported in 1992^1-3 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, . . . [Full Text PDF of this Article]

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?