Multiple Intestinal Anomalies in a Newborn with 22q11.2 Microdeletion Syndrome: A Case Report and Literature Review

被引：0

作者：

Jafar, Bedour ^{[1
]}

Alemayehu, Hanna ^{[2
]}

Bhat, Ramachandra ^{[3
]}

Zayek, Michael ^{[4
]}

机构：

[1] Univ S Alabama, Dept Pediat, Mobile, AL USA

[2] Univ S Alabama, Dept Surg, Div Pediat Surg, Mobile, AL USA

[3] Louisiana State Univ, Dept Pediat, Div Neonatol, Hlth Sci Ctr, Shreveport, LA USA

[4] Univ S Alabama, Dept Pediat, Div Neonatol, Mobile, AL USA

来源：

JOURNAL OF PEDIATRIC GENETICS | 2024年 / 13卷 / 03期

关键词：

22q11.21 deletion syndrome; annular pancreas; anorectal malformations; Morgagni-type diaphragmatic hernia; DiGeorge's syndrome; CATCH; 22; CONGENITAL HEART-DEFECTS; DELETION SYNDROME; VELOCARDIOFACIAL-SYNDROME; DIGEORGE-SYNDROME; PHENOTYPE; SPECTRUM; INDIVIDUALS; EXPRESSION; GUIDELINES; ADULTS;

D O I：

10.1055/s-0042-1750748

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Although 40 years have passed since the first case of DiGeorge's syndrome was described, and the knowledge about this disorder has steadily increased since that time, 22q11.2 deletion syndrome (DS) remains a challenging diagnosis because its clinical presentation varies widely. We describe an infant with 22q11.2 DS who presented with annular pancreas, anorectal malformation, Morgagni-type congenital diaphragmatic hernia, and ventricular septal defect. This constellation of anomalies has never been described in DiGeorge's syndrome. Here, we provide a case presentation and a thorough review of the literature.

引用

页码：237 / 244

页数：8

共 47 条

[1] Delayed diagnosis of annular pancreas in 11-year-old girl with DiGeorge syndrome [J].

Barr, Mary Margaret ;

Gilbert, James ;

Murrell, Zaria .

JOURNAL OF PEDIATRIC SURGERY CASE REPORTS, 2020, 60

[2] Premature death in adults with 22q11.2 deletion syndrome [J].

Bassett, A. S. ;

Chow, E. W. C. ;

Husted, J. ;

Hodgkinson, K. A. ;

Oechslin, E. ;

Harris, L. ;

Silversides, C. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (05) :324-330

[3] Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome [J].

Bassett, Anne S. ;

Lowther, Chelsea ;

Merico, Daniele ;

Costain, Gregory ;

Chow, Eva W. C. ;

van Amelsvoort, Therese ;

McDonald-McGinn, Donna ;

Gur, Raquel E. ;

Swillen, Ann ;

Van den Bree, Marianne ;

Murphy, Kieran ;

Gothelf, Doron ;

Bearden, Carrie E. ;

Eliez, Stephan ;

Kates, Wendy ;

Philip, Nicole ;

Sashi, Vandana ;

Campbell, Linda ;

Vorstman, Jacob ;

Cubells, Joseph ;

Repetto, Gabriela M. ;

Simon, Tony ;

Boot, Erik ;

Heung, Tracy ;

Evers, Rens ;

Vingerhoets, Claudia ;

van Duin, Esther ;

Zackai, Elaine ;

Vergaelen, Elfi ;

Devriendt, Koen ;

Vermeesch, Joris R. ;

Owen, Michael ;

Murphy, Clodagh ;

Michaelovosky, Elena ;

Kushan, Leila ;

Schneider, Maude ;

Fremont, Wanda ;

Busa, Tiffany ;

Hooper, Stephen ;

McCabe, Kathryn ;

Duijff, Sasja ;

Isaev, Karin ;

Pellecchia, Giovanna ;

Wei, John ;

Gazzellone, Matthew J. ;

Scherer, Stephen W. ;

Emanuel, Beverly S. ;

Guo, Tingwei ;

Morrow, Bernice E. ;

Marshall, Christian R. .

AMERICAN JOURNAL OF PSYCHIATRY, 2017, 174 (11) :1054-1063

[4] Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome [J].

Bassett, Anne S. ;

McDonald-McGinn, Donna M. ;

Devriendt, Koen ;

Digilio, Maria Cristina ;

Goldenberg, Paula ;

Habel, Alex ;

Marino, Bruno ;

Oskarsdottir, Solveig ;

Philip, Nicole ;

Sullivan, Kathleen ;

Swillen, Ann ;

Vorstman, Jacob .

JOURNAL OF PEDIATRICS, 2011, 159 (02) :332-U213

[5] Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome [J].

Baylis, Adriane L. ;

Shriberg, Lawrence D. .

AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY, 2019, 28 (01) :53-82

[6] Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update [J].

Beleza-Meireles, Ana ;

Clayton-Smith, Jill ;

Saraiva, Jorge M. ;

Tassabehji, May .

JOURNAL OF MEDICAL GENETICS, 2014, 51 (10) :635-645

[7] Velopharyngeal incompetence and chromosome 22q11 deletion [J].

Boorman, JG ;

Varma, S ;

Ogilvie, CM .

LANCET, 2001, 357 (9258) :774-774

[8] 22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features [J].

Burnside, Rachel D. .

CYTOGENETIC AND GENOME RESEARCH, 2015, 146 (02) :89-99

[9] 22q and two: 22q11.2 deletion syndrome and coexisting conditions [J].

Cohen, Jennifer L. ;

Crowley, Terrence B. ;

McGinn, Daniel E. ;

McDougall, Carey ;

Unolt, Marta ;

Lambert, Michele P. ;

Emanuel, Beverly S. ;

Zackai, Elaine H. ;

McDonald-McGinn, Donna M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (10) :2203-2214

[10] Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography [J].

da Silva Bellucco, Fernanda Teixeira ;

Nogueira Belangero, Sintia Iole ;

Silveira Farah, Leila Montenegro ;

Lima Machado, Maria Virginia ;

Cruz, Adriano Pastor ;

Lopes, Lilian Maria ;

Borges Lopes, Marco Antonio ;

Zugaib, Marcelo ;

Cernach, Mirlene Cecilia ;

Melaragno, Maria Isabel .

PEDIATRIC CARDIOLOGY, 2010, 31 (08) :1146-1150

← 1 2 3 4 5 →