نتایج جستجو برای: meckel

تعداد نتایج: 1043  

Journal: :Sri Lanka Journal of Child Health 2008

Journal: :Sudanese journal of paediatrics 2012
Sarar Mohamed Fatima Ibrahim Kameel Kamil Satti A Satti

Meckel-Gruber syndrome (MGS) is an autosomal recessive disorder characterized by occipital encephalocele, polycystic kidneys and variable other congenital malformations. We report on a Sudanese patient with MGS diagnosed by antenatal ultrasound scan. Pregnancy was terminated at 25 weeks of gestation.

Journal: :The Ceylon medical journal 2004
M V C de Silva H Senanayake K D V P Siriwardana

Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usua...

Journal: :Indian journal of pathology & microbiology 2004
S R Desai J V Wader

Meckel Gruber Syndrome is a rare syndrome inherited as Mendelian autosomal recessive condition. The affected infant usually has a large occipital encephalocoele associated with renal cysts and sometimes polydactyly. The prognosis is poor. The affected child is still born or dies early in infancy. If diagnosis is done by prenatal ultrasound examination termination of pregnancy can be done.

Journal: :Revista médica (Colegio de Médicos y Cirujanos de Guatemala) 2021

Journal: : 2022

Objective: We aimed to investigate the epidemiological and characteristic features of patients with Meckel’s diverticulum (MD) treated in our clinic share experiences.Material Methods: Records were reviewed retrospectively. Demographic clinical data, treatments modalities, appearance location MD results histopathological examination investigated. Patients compared according gender whether they ...

2013
Amanda C. Leightner Cynthia J. Hommerding Ying Peng Jeffrey L. Salisbury Vladimir G. Gainullin Peter G. Czarnecki Caroline R. Sussman Peter C. Harris

Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation, and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiolog...

Journal: :Annali italiani di chirurgia 2003
A Cappellani M Di Vita A Zanghì E Lo Menzo P Conti

The ureteral diverticulum represents a rare pathology. It is infrequently symptomatic and even more infrequently it manifests itself as an acute event. To our knowledge this is the only case described in the literature of perforated ureteral diverticulum with consequent uroperitoneum.

Journal: :International journal of advanced research 2022

Gastrointestinal duplication cysts are a rare congenital malformation in the gastrointestinal tract, most commonly seen ilium. The present study reported child with mid ileal cyst ofthe ectopic gastric mucosa that was diagnosed by Technetium-99m pertechnetate single-photon emission computed tomography-computed tomography (SPECT-CT) scintigraphy. can massive lower bleeding early childhood (Mecke...

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