Results 71 to 80 of about 9,646 (164)

Early‐Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Dyskeratosis congenita (DC) is a rare telomere biology disorder characterized by mucocutaneous abnormalities and progressive bone marrow failure. We report a 10‐year‐old boy with a hemizygous DKC1 c.1058C > T (p.Ala353Val) variant who presented with unusually early mucocutaneous findings, including oral leukoplakia at 2 years of age, followed ...
Harun Kasapoğlu, Aslı Turgutoğlu Yılmaz, Berkin Berk Akbeyaz, Neslihan Çalışkan, Yılmaz Ay   +4 more
wiley   +1 more source

Repair of Recurrent Pectus Excavatum with a Huge Chest Wall Defect in a Patient with a Previous Ravitch and Pectus Bar Repair: A Case Report

Journal of Chest Surgery, 2022
Recurrent pectus excavatum (PE) after a Ravitch operation is not uncommon. Extensive costal cartilage resection from the previous Ravitch procedure can lead to an irregular, unstable chest wall depressions with a varying degree of deformity.
Gongmin Rim, Hyung Joo Park
doaj   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2288-2292, September 2026.
Sangeetha Yoganathan, Haya S. AlFaris, Lindsey Vogt, Michele Eid, Anika Menetrey, Sayoni Roy Chowdhury, Dawn Codeiro, Pradeep Krishnan, Liali Aljouda, Emily W.Y. Tam, Carolina Gorodetsky   +10 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Repair of pectus excavatum in a toddler with Prune Belly syndrome and left bronchus compression

Journal of Pediatric Surgery Case Reports, 2017
A 2-year-old boy with prune-belly syndrome and severe pectus excavatum experienced recurrent pulmonary infections. A CT scan of the chest demonstrated compression of the left mainstem bronchus and leftward shift of the heart.
Shawn T. Liechty, Henry J. Baskin, Rebecka L. Meyers, Michael D. Rollins   +3 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Tratamiento del Pectus excavatum con cirugía minimamente invasiva con la técnica de Donald Nuss

Revista Médica Herediana, 2011
El Pectus excavatum, es una malformación congénita de la pared anterior del tórax, caracterizada por una depresión del esternón. Objetivo: Evaluar los resultados del tratamiento quirúrgico en pacientes con pectus excavatum, utilizando la técnica de Nuss.
Mario Lopez-Carranza, Oswaldo Silvia-Rodríguez, Jorge Achata-Arenas, Victor Mendizabal-Quiñonez, Manuel Calvay-Salinas, Herbert Mostacero-Plasencia, Felipe Sandoval-Espinoza, Ricardo Zavaleta-Alfaro   +7 more
doaj  

Outcomes in adult pectus excavatum patients undergoing Nuss repair

, 2018
MennatAllah M Ewais, Shivani Chaparala, Rebecca Uhl, Dawn E JaroszewskiDepartment of Cardiothoracic Surgery, Mayo Clinic Hospital, Phoenix, AZ, USA Abstract: Pectus excavatum (PEx) is one of the most common congenital chest wall ...
Jaroszewski DE, Chaparala S, Uhl R, Ewais MM   +3 more
core  

Comparison of baseline characteristics and changes between patients with pectus excavatum only and patients with pectus excavatum and obstructive sleep apnea.

, 2022
Comparison of baseline characteristics and changes between patients with pectus excavatum only and patients with pectus excavatum and obstructive sleep apnea.
Chou-Chin Lan (2938674), Yeung-Leung Cheng (8911268), Yao-Kuang Wu (12236921), Mei-Chen Yang (8911262), Wen-Lin Su (407201), Yi-Chih Huang (14106551)   +5 more
core   +1 more source

Pulmonary Embolism: A Late Complication of Pectus Excavatum Repair

, 2014
The Ravitch operation is frequently performed to correct pectus excavatum with few and minor complications. We present a case of pulmonary embolism with pulmonary endarterectomy in a patient undergoing Ravitch repair for pectus excavatum 2 years ...
YILDIZELİ, BEDRETTİN
core   +2 more sources