eMedicine from WebMD
 

eMedicine Specialties > Dermatology > Pediatric Diseases

DiGeorge Syndrome

Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine

Updated: Nov 6, 2009

Introduction

Background

DiGeorge anomaly is one of a group of disorders that share a chromosome deletion resulting in monosomy 22q11. These disorders include cardiac defect, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia (CATCH-22) syndrome[3,4 ]; conotruncal anomaly face syndrome; and DiGeorge anomaly syndrome.

Also see the eMedicine pediatrics article, DiGeorge Syndrome.

Pathophysiology

This condition is a heterogeneous genodermatosis with deletions of chromosome band 22q11, which result in monosomy 22q11. The clinical syndrome results from a congenital developmental field defect with malformation of the third and fourth pharyngeal pouches. Patients have a variable T-cell deficiency resulting from faulty embryologic development of the thymus and parathyroid glands. A combined T- and B-cell deficiency may result from lack of T-helper cell function. Other features include cardiac abnormalities; parathyroid deficiency; hypocalcemia; characteristic facies; and recurrent infections, especially oral candidiasis.

Although band 22q11.2 deletion is the most common etiology of DiGeorge anomaly, other chromosomal anomalies (namely TBX1 gene mutations[5 ]), teratogens, and maternal diabetes have also been implicated. The DiGeorge critical region 6 gene is present in 2 highly homologous copies (DGCR6[6 ]and DCGR6L) on band 22q11, and deletions of this gene results in velocardiofacial syndrome/DiGeorge syndrome.[7 ]

Frequency

United States

DiGeorge syndrome is rare. The 22q11 deletion is estimated to occur in approximately 1 in 4000 live births.

International

DiGeorge syndrome is rare.

Mortality/Morbidity

Severe cases of DiGeorge syndrome manifest with severe combined immune deficiency (SCID). Death is typically caused by infection during early infancy.

Race

No racial predilection is reported for DiGeorge syndrome.

Sex

No sex predilection is recognized for DiGeorge syndrome.

Age

DiGeorge syndrome is congenital.

Clinical

History

  • Depending on the degree of T-cell dysfunction, infection is the primary problem and leads to early death.
  • Endocrinologic problems associated with parathyroid deficiency must be addressed.[8 ]These include the following:
    • Hypocalcemia (approximately 33% of patients in one study)[9 ]
    • Chronic diarrhea
    • Nephrocalcinosis
    • Tetany: Neonatal tetany has been reported as a result of hypocalcemia.
  • In addition, congenital defects of the heart and major vessels are common and may require early surgical intervention.
  • Neuropsychological deficits include impairment in selective and executive visual attention, working memory, and sensorimotor function. Approximately 25% of children develop schizophrenia in late adolescence or adulthood. Most commonly noted childhood and adolescent psychiatric disorders are attention-deficit/hyperactivity disorder, oppositional defiant disorder, anxiety disorders, and major depression.[10 ]

Physical

  • Characteristic facial features of DiGeorge syndrome[11 ]
    • Short philtrum
    • Low-set malformed ears
    • Hypertelorism
  • Other features of DiGeorge syndrome
    • Micrognathia
    • Bifid uvula
    • Bowed mouth
    • Congenital anterior glottic web[12 ]
  • Cardiac features of DiGeorge syndrome
    • Truncus arteriosus
    • Septal defects
    • Abnormal aortic arch vessels (eg, interrupted aortic arch, double aortic arch, aberrant subclavian artery)
  • Neurologic features of DiGeorge syndrome
    • Mental retardation
    • Calcification of the CNS
  • Renal features of DiGeorge syndrome - Nephrocalcinosis
  • Dermatological features of DiGeorge syndrome - Case report of severe eczema in 22qDS[13 ]and "rash and lymphadenopathy" in one third of patients[14 ]
  • Ocular findings in DiGeorge syndrome - Posterior embryotoxon, tortuous retinal vessels, eyelid hooding, strabismus, ptosis, amblyopia[15 ]; familial exudative vitreoretinopathy[16 ]; sclerocornea[17 ]
  • Skeletal features of DiGeorge syndrome - Two patients with limb abnormalities (ectrodactyly, synostosis)[18 ]
  • Dental features of DiGeorge syndrome - Hypodevelopment of lingual cusp of mandibular first premolars and enamel opacities[19 ]
  • Pulmonary features of DiGeorge syndrome
    • Tracheoesophageal fistula
    • Short trachea with a reduced number of tracheal rings
    • Abnormal thyroid cartilage
    • Laryngomalacia
    • Tracheomalacia
    • Bronchomalacia
    • Hypernasality[20 ]

Causes

The deletion of band 22q11, which results in monosomy 22q11, produces the developmental changes of DiGeorge syndrome.

  • Recent estimates suggest that the deletion of band 22q11.2 occurs in approximately 1 in 4000 live births.
  • Because the 22q11.2 deletion is present in most patients with the DiGeorge anomaly and a conotruncal anomaly face syndrome, these conditions are probably phenotypic variants of the same disorder.

Differential Diagnoses

Severe Combined Immunodeficiency

Workup

Laboratory Studies

  • Low serum calcium levels may be present. Hypocalcemia may be secondary to hypoparathyroidism.
  • The white blood cell count with differential may reveal lymphopenia (ie, T-cell deficiency, not B-cell deficiency, though a combined T-cell and B-cell deficiency may result from lack of T-helper cell function).

Imaging Studies

  • Radiography of the head in DiGeorge syndrome patients may reveal calcifications in the CNS.
  • Radiography of the abdomen depicts nephrocalcinosis.
  • CT scanning of the thorax and angiography in DiGeorge syndrome patients may show malformations of the heart and great vessels, an interrupted aortic arch, tetralogy of Fallot, and truncus arteriosus.
  • CT scanning of the neck in DiGeorge syndrome patients may show lower carotid artery bifurcations.[21 ]
  • CT scanning of the neck may show thyroid abnormalities, including the absence of a lobe, absence of isthmus, and retrocarotid or retroesophageal extension.[21 ]
  • An absent thymus or one in an aberrant location may be noted on chest radiographs and CT scans.
    • Despite the emphasis on thymus defects in the literature about DiGeorge anomaly, clinically significant thymus defects are found in less than 5% of the cases.
    • Maldescent of the thymus is extremely common.

Other Tests

  • A dilated retinal examination can help detect familial exudative vitreoretinopathy.[16 ]
  • Prenatal diagnostic testing can be offered to couples at risk.[22,23 ]
  • Indications for testing include a previous child or an affected parent with a 22q11.2 deletion or the in utero detection of a conotruncal cardiac defect.[24 ]
    • Fluorescent in situ hybridization (FISH) using commercial probes is the most common technique used to detect the 22q11.2 deletion.[25 ]
    • Chromosomal breakpoints and deletion size are determined by short tandem repeat tests or further FISH probes.[25 ]
    • A newer technique, multiplex ligation-dependent probe amplification (MLPA) single-tube assay has been developed to detect the 22q11.2 region and other chromosomal regions associated with DiGeorge syndrome. The advantage of MLPA is that it is a rapid, reliable economical high throughput method for diagnosis.[25,26 ]
    • A high-resolution, single-nucleotide polymorphism (SNP) genotyping assay has been developed to detect 22q11 deletions.[27 ]
    • Array comparative genomic hybridization (array CGH) is a high-resolution genome scanning procedure for DNA dosage aberrations. It can detect single copy number aberrations.
    • FastFISH is a rapid FISH method that allows release of accurate results the same day the amniocentesis is performed.[28 ]

Treatment

Medical Care

  • Hypoparathyroidism in DiGeorge syndrome patients is controlled with vitamin D and calcium supplementation. Vitamin D at 1-5 mcg/d and calcium at 2-3 g/d are required.
  • Recurrent infection is treated with antibiotics appropriate for the cultured organism.
  • Adoptive transfer of mature T-cells (ATMTC) through bone marrow transplantation can be used in DiGeorge syndrome patients.[29 ]
  • DiGeorge syndrome remains difficult to treat.
  • The following clinical guideline summaries may be helpful:
    • Joint Council of Allergy, Asthma and Immunology -Practice parameter for the diagnosis and management of primary immunodeficiency[30 ]
    • British Committee for Standards in Haematology -(1) Transfusion guidelines for neonates and older children. (2) Amendments and corrections to the transfusion guidelines for neonates and older children[31 ]

Surgical Care

  • Cardiac and great vessel defects should be corrected in DiGeorge syndrome patients.
  • Thymus transplantation can help reconstitute immune function in infancy.[14,32,33,34,35 ]
  • Surgical treatment by velopharyngoplasty of noncleft velopharyngeal insufficiency has generally been effective in DiGeorge syndrome patients.[36,37 ]
  • Surgical reconstruction to repair congenital anterior glottic webs or tracheotomy to establish more competent airway can be performed in DiGeorge syndrome patients.[12 ]
  • Surgical repair of cleft palate may be needed in DiGeorge syndrome patients.[38 ]

Consultations

  • A pediatric cardiothoracic surgeon may help in the evaluation and correction of cardiac and great vessel defects.
  • An endocrinologist may be consulted regarding the management of hypoparathyroidism.
  • An infectious disease specialist may assist in the management of recurrent infections.
  • An ear, nose, and throat specialist may be needed to manage structural abnormalities in the airway.
  • Ophthalmologists can assess for ocular malformations.
  • A genetic counselor can help with counseling.[24 ]

Follow-up

Further Outpatient Care

  • Management of infection early in the course of illness is important in DiGeorge syndrome patients.
  • Endocrinologic follow-up care for hypocalcemia is indicated.

Inpatient & Outpatient Medications

  • For hypocalcemia in DiGeorge syndrome patients, administer as follows:
    • Vitamin D at 3-5 mcg/d
    • Calcium at 2-3 g/d

Complications

  • Sepsis is a risk in athymic patients.
  • Early treatment of infections is important in DiGeorge syndrome patients.
  • Avoid live vaccines. Use caution when administering live viral vaccines to severely immunodeficient patients.[39 ]

Prognosis

  • The prognosis for DiGeorge syndrome patients is poor and depends on the degree of T-cell deficiency.
  • Infants with severe immunodeficiency typically die of sepsis, which is usually due to bacterial or fungal infections.

Patient Education

  • DiGeorge syndrome patients must be aware that early intervention of infections improves the prognosis.

Miscellaneous

Medicolegal Pitfalls

  • Failure to diagnose DiGeorge syndrome is a pitfall.
  • Failure to treat the infection is a pitfall.
  • Failure to offer prenatal testing is a pitfall.

Special Concerns

  • Prenatal diagnostic testing can be offered to couples at risk (see Other Tests).[22 ]

References

  1. Antshel KM, Kates WR, Roizen N, Fremont W, Shprintzen RJ. 22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords. Child Neuropsychol. Feb 2005;11(1):5-19. [Medline].

  2. Shprintzen RJ. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev. 2008;14(1):3-10. [Medline].

  3. Burn J. Closing time for CATCH22. J Med Genet. Oct 1999;36(10):737-8. [Medline].

  4. Hong R. The DiGeorge anomaly (CATCH 22, DiGeorge/velocardiofacial syndrome). Semin Hematol. Oct 1998;35(4):282-90. [Medline].

  5. Stoller JZ, Epstein JA. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation. Hum Mol Genet. Apr 1 2005;14(7):885-92. [Medline].

  6. Pfuhl T, Durr M, Spurk A, et al. Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes. Hum Genet. Jun 2005;117(1):70-80. [Medline].

  7. Bittel DC, Yu S, Newkirk H, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009;124(2):113-20. [Medline].

  8. Choi JH, Shin YL, Kim GH, et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res. 2005;63(6):294-9. [Medline].

  9. Johnston PC, Donnelly DK, Morrison PJ, Hunter SJ. DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood. Ulster Med J. Sep 2008;77(3):201-2. [Medline].

  10. Jolin EM, Weller RA, Weller EB. Psychosis in children with velocardiofacial syndrome (22q11.2 deletion syndrome). Curr Psychiatry Rep. Apr 2009;11(2):99-105. [Medline].

  11. Butts SC. The facial phenotype of the velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol. Mar 2009;73(3):343-50. [Medline].

  12. Cheng AT, Beckenham EJ. Congenital anterior glottic webs with subglottic stenosis: surgery using perichondrial keels. Int J Pediatr Otorhinolaryngol. Jul 2009;73(7):945-9. [Medline].

  13. Minakawa S, Nakano H, Takeda H, et al. Chromosome 22q11.2 deletion syndrome associated with severe eczema. Clin Exp Dermatol. Apr 2009;34(3):410-1. [Medline].

  14. Markert ML, Devlin BH, Chinn IK, McCarthy EA. Thymus transplantation in complete DiGeorge anomaly. Immunol Res. 2009;44(1-3):61-70. [Medline].

  15. Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS. Apr 2007;11(2):179-82. [Medline].

  16. Gilmour DF, Downey LM, Sheridan E, et al. Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?. Ophthalmology. Aug 2009;116(8):1522-4. [Medline].

  17. Binenbaum G, McDonald-McGinn DM, Zackai EH, et al. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A. Apr 1 2008;146(7):904-9. [Medline].

  18. Kokitsu-Nakata NM, Guion-Almeida ML, Richieri-Costa A. 22q11 deletion syndrome and limb anomalies: report on two Brazilian patients. Cleft Palate Craniofac J. Sep 2008;45(5):561-6. [Medline].

  19. da Silva Dalben G, Richieri-Costa A, de Assis Taveira LA. Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. Aug 2008;106(2):e46-51. [Medline].

  20. Baylis AL, Watson PJ, Moller KT. Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot study. Folia Phoniatr Logop. 2009;61(2):93-6. [Medline].

  21. de Almeida JR, James AL, Papsin BC, Weksburg R, Clark H, Blaser S. Thyroid gland and carotid artery anomalies in 22q11.2 deletion syndromes. Laryngoscope. Aug 2009;119(8):1495-500. [Medline].

  22. Driscoll DA. Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med. Jan-Feb 2001;3(1):14-8. [Medline].

  23. Shefi S, Raviv G, Rienstein S, Barkai G, Aviram-Goldring A, Levron J. Fish based preimplantation genetic diagnosis to prevent DiGeorge syndrome. J Assist Reprod Genet. Jul 2009;26(7):411-3. [Medline].

  24. McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14(1):69-74. [Medline].

  25. Fernandez L, Lapunzina P, Arjona D, et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet. Oct 2005;68(4):373-8. [Medline].

  26. Cho EH, Park BY, Cho JH, Kang YS. Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization. Korean J Lab Med. Feb 2009;29(1):71-6. [Medline].

  27. Funke BH, Brown AC, Ramoni MF, et al. A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions. Genet Test. Spring 2007;11(1):91-100. [Medline].

  28. Choolani M, Ho SS, Razvi K, et al. FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Mol Hum Reprod. Jun 2007;13(6):355-9. [Medline].

  29. McGhee SA, Lloret MG, Stiehm ER. Immunologic reconstitution in 22q deletion (DiGeorge) syndrome. Immunol Res. 2009;45(1):37-45. [Medline].

  30. Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. May 2005;94(5 Suppl 1):S1-63. [Medline].

  31. [Guideline] Gibson BE, Todd A, Roberts I, et al. Transfusion guidelines for neonates and older children. Br J Haematol. Feb 2004;124(4):433-53. [Medline].

  32. Hong R. Thymus transplants: a look to the future. Birth Defects Orig Artic Ser. 1975;11(1):357-60. [Medline].

  33. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood. May 15 2007;109(10):4539-47. [Medline].

  34. Ciupe SM, Devlin BH, Markert ML, Kepler TB. The dynamics of T-cell receptor repertoire diversity following thymus transplantation for DiGeorge anomaly. PLoS Comput Biol. Jun 2009;5(6):e1000396. [Medline].

  35. Markert ML, Devlin BH, Chinn IK, McCarthy EA, Li YJ. Factors affecting success of thymus transplantation for complete DiGeorge anomaly. Am J Transplant. Aug 2008;8(8):1729-36. [Medline].

  36. Rouillon I, Leboulanger N, Roger G, et al. Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletion. Arch Otolaryngol Head Neck Surg. Jul 2009;135(7):652-6. [Medline].

  37. Widdershoven JC, Stubenitsky BM, Breugem CC, MinkvanderMolen AB. Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg. Nov 2008;134(11):1159-64. [Medline].

  38. Nugent N, McGillivary A, Earley MJ. 22q11 chromosome abnormalities and the cleft service. J Plast Reconstr Aesthet Surg. Feb 25 2009;[Medline].

  39. Waters V, Peterson KS, LaRussa P. Live viral vaccines in a DiGeorge syndrome patient. Arch Dis Child. Jun 2007;92(6):519-20. [Medline].

  40. Bearden CE, Jawad AF, Lynch DR, et al. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychol. Feb 2005;11(1):109-17. [Medline].

  41. Conley ME, Beckwith JB, Mancer JF, Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr. Jun 1979;94(6):883-90. [Medline].

  42. DeBerardinis RJ, Medne L, Spinner NB, Zackai EH. DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother. Am J Med Genet A. Oct 1 2005;138A(2):155-9. [Medline].

  43. Driscoll DA. Genetic basis of DiGeorge and velocardiofacial syndromes. Curr Opin Pediatr. Dec 1994;6(6):702-6. [Medline].

  44. Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. The 22q11.2 deletion syndrome. Adv Pediatr. 2001;48:39-73. [Medline].

  45. Freedberg IM, Eisen AZ, Wolff K. Fitzpatrick's Dermatology in General Medicine. 5th ed. New York: McGraw-Hill; 1999:1402.

  46. Gerdes M, Solot C, Wang PP, McDonald-McGinn DM, Zackai EH. Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion. Genet Med. Jan-Feb 2001;3(1):40-4. [Medline].

  47. Goldsobel AB, Haas A, Stiehm ER. Bone marrow transplantation in DiGeorge syndrome. J Pediatr. Jul 1987;111(1):40-4. [Medline].

  48. Harris V. 22q11 deletion syndrome and forensic research: can we go there?. J Am Acad Psychiatry Law. 2005;33(1):106-11. [Medline].

  49. Hong R. The DiGeorge anomaly. Clin Rev Allergy Immunol. Feb 2001;20(1):43-60. [Medline].

  50. Huang RY, Shapiro NL. Structural airway anomalies in patients with DiGeorge syndrome: a current review. Am J Otolaryngol. Sep-Oct 2000;21(5):326-30. [Medline].

  51. Hurwitz S. Clinical Pediatric Dermatology. 2nd. Philadelphia, Pa: WB Saunders; 1993:592-3.

  52. Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr. Aug 1995;127(2):231-7. [Medline].

  53. Kornfeld SJ, Zeffren B, Christodoulou CS, Day NK, Cawkwell G, Good RA. DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunol. May 2000;105(5):983-7. [Medline].

  54. Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet. Nov 11 1996;65(4):309-16. [Medline].

  55. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. Jan-Feb 2001;3(1):45-8. [Medline].

  56. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11. Genet Couns. 1999;10(1):25-33. [Medline].

  57. Markert ML, Hummell DS, Rosenblatt HM, et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr. Jan 1998;132(1):15-21. [Medline].

  58. McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test. 1997;1(2):99-108. [Medline].

  59. McLean-Tooke A, Spickett GP, Gennery AR. Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scand J Immunol. Jul 2007;66(1):1-7. [Medline].

  60. Oskarsdottir S, Persson C, Eriksson BO, Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. Mar 2005;164(3):146-53. [Medline].

  61. Rice HE, Skinner MA, Mahaffey SM, et al. Thymic transplantation for complete DiGeorge syndrome: medical and surgical considerations. J Pediatr Surg. Nov 2004;39(11):1607-15. [Medline].

  62. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. Oct 2000;9(16):2421-6. [Medline].

  63. Schuffenhauer S, Seidel H, Oechsler H, et al. DiGeorge syndrome and partial monosomy 10p: case report and review. Ann Genet. 1995;38(3):162-7. [Medline].

  64. Scuccimarri R, Rodd C. Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. J Pediatr Endocrinol Metab. Mar-Apr 1998;11(2):273-6. [Medline].

  65. Sobin C, Kiley-Brabeck K, Karayiorgou M. Lower prepulse inhibition in children with the 22q11 deletion syndrome. Am J Psychiatry. Jun 2005;162(6):1090-9. [Medline].

  66. Stevens CA, Carey JC, Shigeoka AO. Di George anomaly and velocardiofacial syndrome. Pediatrics. Apr 1990;85(4):526-30. [Medline].

  67. Stiers P, Swillen A, De Smedt B, et al. Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome. Child Neuropsychol. Feb 2005;11(1):87-108. [Medline].

  68. Thomas JA, Graham JM Jr. Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). May 1997;36(5):253-66. [Medline].

  69. Turnpenny PD, Pigott RW. Deletion 22q11 syndrome: acknowledging a lost eponym as we say farewell to an acronym. J Med Genet. Apr 2001;38(4):271-3. [Medline].

  70. Vantrappen G, Devriendt K, Swillen A, et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns. 1999;10(1):3-9. [Medline].

  71. Weinzimer SA. Endocrine aspects of the 22q11.2 deletion syndrome. Genet Med. Jan-Feb 2001;3(1):19-22. [Medline].

  72. Zinkstok J, van Amelsvoort T. Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review. Child Neuropsychol. Feb 2005;11(1):21-37. [Medline].

Keywords

DiGeorge syndrome, DiGeorge’s syndrome, DiGeorge’s anomaly, DiGeorge anomaly, congenital thymic aplasia, third and fourth branchial pouch syndrome, CATCH-22 syndrome, DiGeorge anomaly and velocardiofacial syndrome, Shprintzen syndrome, 1,  2 Sedlakova syndrome, conotruncal anomaly face syndrome, monosomy 22q11, severe combined immunodeficiency, severe combined immune deficiency, SCID, 22qDS

Contributor Information and Disclosures

Author

Suguru Imaeda, MD, Chief of Dermatology, Yale University Health Services; Chief of Dermatology, West Haven Veterans Affairs Medical Center; Assistant Professor, Department of Dermatology, Yale University School of Medicine
Suguru Imaeda, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Connecticut State Medical Society, Sigma Xi, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Mark A Crowe, MD, Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine
Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

Further Reading

© 1994- by Medscape.
All Rights Reserved
(http://www.medscape.com/public/copyright)