Velocardiofacial Syndrome Presenting as Hypocalcemia in Early Adolescence FREE

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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ABSTRACT

ABSTRACT | REFERENCES

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,

REFERENCES

ABSTRACT | REFERENCES

De la Chapelle A, Herva R, Kovisto M, Aula P. A deletion in chromosome 22 can cause DiGeorge syndrome . Hum Genet . 1981;;57:253-256.

Scambler PJ, Kelly D, Lindsay E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus . Lancet . 1992;;339:1138-1139.

Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome . Am J Med Genet . 1992;;44:261-268.

Wilson Dl, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22 . J Med Genet . 1993;;30:852-856.

Motzkin B, Marion R, Goldberg R, et al. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion . J Pediatr . 1993;;123:406-410.

Goldberg R, Motzkin B, Marion R, Scambler P, Shprintzen R. Velo-cardiofacial syndrome: a review of 120 patients . Am J Med Genet . 1993;;45:313-319.

Demczuk S, Aurias A. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: a review . Ann Genet . 1995;;38:59-76.

Mitnick RJ, Bello JA, Shprintzen RJ. Brain anomalies in velo-cardio-facial syndrome . Am J Med Genet . 1994;;54:100-106.

Greig F, Paul E, DiMartino-Nardi J, Saenger P. Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q1 1 deletion . J Pediatr . 1996;;128:563-567.

Seigel-Bartelt J, Kooh SW, Cytrynbaum C, Teshima I. Hypoparathyroidism in microdeletion 22ql 1.2. Presented at Third Joint Clinical Genetics Meeting of March of Dimes and The American College of Medical Genetics; March 11-14, 1996; San Antonio, Tex.

Scire G, Dallapiccola B, lannetti P, et al. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions . Am J Med Genet . 1994;; 52:478-482.

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