Results 151 to 160 of about 3,111 (261)

Agenesia parcial del cuerpo calloso en una infante

Medisan
Se presenta el caso clínico de una infante de 13 meses de edad, con antecedente de agenesia del cuerpo calloso, quien ingresó en la sala de nutrición del Hospital General Docente "Dr.
Julio Ernesto Rodríguez Serret, Jose Angel Martínez López, Yuneisy Renté Nabadié   +2 more
doaj  

Pregnancy Complications in Uterine Anomalies-A Pilot Study. [PDF]

J Clin Med
Voic C, Mitranovici MI, Voidazan S, Mureşan CM, Bernad ES.   +4 more
europepmc   +1 more source

Minimally invasive management of large seminal vesicle cyst in Zinner syndrome: Laser ablation for urinary retention

UroPrecision, Volume 4, Issue 2, Page 112-115, June 2026.
Abstract Background In Zinner syndrome (ZS), surgical intervention is recommended for pediatric patients with symptomatic disease. It is generally believed that cyst aspiration alone may lead to symptom recurrence. Although comprehensive surgical excision is often advocated to prevent recurrence, a combined approach of cyst aspiration and maximal cyst ...
Muhammed Arif Ibis, Zafer Tokatlı, Araz Musaev, Tarkan Soygür   +3 more
wiley   +1 more source

Agenesia medial orofacial: presentación de un caso

, 2013
RESUMENFundamento: la agenesia medial orofacial o falsa hendidura media es una malformación congénita poco frecuente que se caracteriza por la ausencia parcial o total del filtrum, la premaxila y la columela.
Revuelta Morales, Carlos, Sabino González, Leopoldo, Crespo Guerra, Mario, Albornoz Lopez del Castillo, Carlos Manuel   +3 more
core  

Interrupted arch or extreme coarctation? [PDF]

JTCVS Struct Endovasc
Carrel T.
europepmc   +1 more source

Agenesia total de pericardio en adulto mayor. Hallazgo por tomografía multicortes.

Revista Cubana de Cardiología y Cirugía Cardiovascular, 2020
Yamilé Marcos Gutiérrez, Aniley Martínez González, Ángela Castro Arca, Aylen Pérez Barreda, Llimia Bencomo Rodríguez   +4 more
doaj   +2 more sources

Congenital myelomeningocele containing two hemicords with placodes in a patient with complex split spinal cord malformation: illustrative case. [PDF]

J Neurosurg Case Lessons
Nestler U, Rakotomaro T, Dupont A, Mayerus M, Casagrande F, Occelli A, Chivoret N.   +6 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

[ Giant asymptomatic anterolateral diaphragmatic hernia in an adult: report of a rare case] [PDF]

Rev Fac Cien Med Univ Nac Cordoba
Espana MI, Signorini F, Moser F, Bustos MEF.   +3 more
europepmc   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, Volume 109, Issue 6, Page 1029-1037, June 2026.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source