Results 31 to 40 of about 402,747 (185)

Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?

, 2009
We report on two familial cases from a non-consanguineous marriage, presenting multiple intestinal and choanal atresia. Massive hydramnios and dilatation of the bowel were observed at 29 weeks of gestation during routine ultrasound scan of a healthy ...
Beckmann, JS, Martinet, D, Ferrarini, A, Vial, Y, Cotting, J, de Viragh, PA, Cotting, J., Martinet, D., Fellmann, F, Osterheld, M.C., de Viragh, P.A., Fellmann, F., Beckmann, J.S., Vial, Y., Ferrarini, A., Osterheld, MC   +15 more
core   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Intestinal atresia due to intrauterine intussusception of a Meckel's diverticulum [PDF]

, 2013
It is widely acknowledged that jejunoileal atresias result from late intrauterine mesenteric vascular accidents as shown in Louw and Barnard's classic study.
Cusick, Robert A., Huebner, Benjamin R., Azarow, Kenneth S.   +2 more
core   +1 more source

Delayed diagnosis of Hirschsprung's disease associated with colonic atresia and multiple anomalies: Report of a case and review of the literature

Journal of Pediatric Surgery Case Reports, 2016
The co-occurrence of colonic atresia and Hirschsprung's disease is extremely rare and presents a diagnostic and therapeutic challenge. Although colonic atresia is usually recognized shortly after birth, the diagnosis of co-existent Hirschsprung's disease
Jinyoung Park
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Atresia jejuno-ileal: análise de 47 casos. [PDF]

, 2002
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Bianchini, Flávio
core  

Intestinal Atresia

, 2010
This chapter considers intestinal atresia from the stomach to the ...
Dorothy Iwagba Kufeji, Chandrasen K. Sinha, Erica Makin, Kufeji, Dorothy, Makin, E.A, Sinha, Chandrasen K.   +5 more
core   +1 more source

CURRENT ISSUES OF NEWBORN CARE IN SURGICAL DISEASES

Медицинский вестник Юга России, 2015
Purpose: to identify the trigger group nosology in newborns, acting on which it is possible to reduce infant mortality and to assess the links between the development of complications and the period from birth to transfer to the surgical ward in ...
T. U. Bykovskaya, M. A. Shishov
doaj   +1 more source

Ileocecal valve atresia with volvulus

Journal of Pediatric Surgery Case Reports, 2022
Atresia of the ileocecal valve is a very rare etiology of neonatal intestinal obstruction. We report the case of a newborn who presents a neonatal occlusion in whom the exploration has found a volvulus of the last intestinal loop and the cecum which were
Hicham Ajdar, Abdelhalim Mahmoudi, Othmane Alaoui, Khalid Khattala, Youssef Bouabdallah   +4 more
doaj   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source