scholarly journals An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

2019 ◽  
Vol 16 (1) ◽  
pp. 39-42
Author(s):  
Go Hun Seo ◽  
Arum Oh ◽  
Minji Kang ◽  
Eun Na Kim ◽  
Ja-Hyun Jang ◽  
...  
Keyword(s):  
Congenital Megacolon ◽  
Kbg Syndrome ◽  
Exonic Deletion

P 1155. Focal Epilepsy Difficult to Treat in Hermann–Pallister’s Syndrome (KBG Syndrome)

2018 ◽  
Author(s):  
Kristina Ungerath ◽  
Grischa Lischetzki ◽  
Birgit Schipper ◽  
Stefanie Beck-Wödl
Keyword(s):  
Focal Epilepsy ◽  
Kbg Syndrome

scholarly journals MACRODONTIA: A brief overview and a case report of KBG syndrome

2021 ◽  
Vol 16 (6) ◽  
pp. 1305-1310
Author(s):  
Manogari Chetty ◽  
Khaled Beshtawi ◽  
Imaan Roomaney ◽  
Salma Kabbashi
Keyword(s):  
Case Report ◽  
Kbg Syndrome

Laparoscopic Swenson Pull-Through Procedure for Congenital Megacolon

AORN Journal ◽  
1995 ◽  
Vol 62 (5) ◽  
pp. 727-736 ◽  
Author(s):  
Cindy George ◽  
Mary Hammes ◽  
Donna Schwarz
Keyword(s):  
Congenital Megacolon ◽  
Pull Through

NEW CONCEPTS OF THE ETIOLOGY, DIAGNOSIS AND TREATMENT OF CONGENITAL MEGACOLON (HIRSCHSPRUNG'S DISEASE)

PEDIATRICS ◽  
1949 ◽  
Vol 4 (2) ◽  
pp. 201-209
Author(s):  
ORVAR SWENSON ◽  
EDWARD B. D. NEUHAUSER ◽  
LAWRENCE K. PICKETT
Keyword(s):  
Contrast Medium ◽  
Operative Technique ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Diagnosis And Treatment ◽  
Congenital Megacolon ◽  
New Concepts ◽  
Permanent Cure

Hirschsprung's disease, or congenital megacolon, is due to a functionally abnormal segment of bowel in the sigmoid or rectosigmoid. This can be demonstrated effectively by appropriate roentgenologic studies with barium as a contrast medium. The bowel above this abnormally functioning segment shows changes commonly found above an area of obstruction; the bowel is dilated and hypertrophied. Removal of the functionally abnormal bowel (rectum or rectosigmoid) has relieved the patients' symptoms. A new operative technique is utilized in performing this resection. The fact is stressed that these children will have to be followed for a period of several years before any claims of a permanent cure can be made.

A splice-site variant in ANKRD11 associated with classical KBG syndrome

2017 ◽  
Vol 173 (10) ◽  
pp. 2844-2846 ◽  
Author(s):  
Karen J. Low ◽  
Alison Hills ◽  
Maggie Williams ◽  
Celia Duff-Farrier ◽  
Shane McKee ◽  
...  
Keyword(s):  
Splice Site ◽  
Kbg Syndrome ◽  
Splice Site Variant

scholarly journals Radiologic imaging of congenital gastrointestinal anomalies in infants

2012 ◽  
Vol 52 (6) ◽  
pp. 341
Author(s):  
Leny Zabidi ◽  
Gatot Irawan Sarosa ◽  
Farah Prabowo
Keyword(s):  
Medical Records ◽  
Cross Sectional Study ◽  
Duodenal Atresia ◽  
Congenital Megacolon ◽  
Time Data ◽  
Pyloric Atresia ◽  
Cross Sectional ◽  
Radiologic Findings ◽  
Radiologic Imaging ◽  
Congenital Gastrointestinal Anomalies

Background Congenital gastrointestinal anomalies may manifestsigns or symptoms in the first few days of life, most commonly inthe fonn of obstructions. Radiologic imaging plays an importantrole in diagnosis confirmation and surgical correction plans. Mostcases may be diagnosed by plain radiographs alone, but cr scansand MRI may be needed to make accurate diagnoses, especiallyin difficult cases.Objective To report radiologic imaging findings in infants Mthcongenital gastrointestinal anomalies.Methods For this retrospective, cross􀁊sectional study we tooksecondary data from medical records of infants 'With congenitalgastrointestinal anomalies in Dr. Kariadi Hospital, Semarang,Indonesia from January 2010 - June 2011. Diagnosis of congenitalanomalies was confirmed by clinical manifestation and radiologicimaging. Radiologic findings were reviewed by a single radiologiston duty at that time. Data is presented in the form of frequencydistribution.Results Subjects consisted of 50 males and 23 females. The mostcormnon complaints were vorrritingin 14 subjects (19%), alxlominaldistension in 31 subjects (43%), and fecal passage dysfunction in28 subjects (38%). Radiologic imaging of subjects with congenitalgastrointestinal anomalies revealed the folloMng conditions: analatresia in 28 subjects (38%), congenital megacolon in 21 subjects(29%), esophageal atresia in 14 subjects (19%), duodenal atresia in9 subjects (12%), and pyloric atresia in 1 subject (2%).Conclusion Using radiologic imaging of infants with congenitalgastrointestinal anomalies, the most to least common conditionsfound were anal atresia, congenital megacolon, esophagealatresia, duodenal atresia, and pyloric atresia. [Paediatr Indones.2012;52:341-5].

scholarly journals P31 Arthritis: a previously unrecognised feature of KBG syndrome

Rheumatology ◽  
2018 ◽  
Vol 57 (suppl_8) ◽  
Author(s):  
Kirsty McLellan ◽  
Gulshan Malik ◽  
Joyce Davidson
Keyword(s):  
Kbg Syndrome
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