Results 31 to 40 of about 34,384 (251)

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Hepatitis C Infection Associated with Acquired Pure Red Cell Aplasia

Tropical Medicine and Infectious Disease, 2022
Acquired pure red cell aplasia is a rare bone marrow failure disorder characterized by many underlying etiologies. The hallmark bone marrow feature is the near absence of erythroid precursors that otherwise exhibit normal cellularity, which has been ...
Destini Teague, Carmelo Gurnari, Hussein Awada, Jaroslaw P. Maciejewski, Ibrahim Ibrahim, Taha Bat   +5 more
doaj   +1 more source

Novel De Novo DLL4 Missense and Highly Accurate Protein Structure Prediction in Adams-Oliver Type 6 Syndrome. [PDF]

Clin Case Rep
ABSTRACT Adams–Oliver syndrome (AOS) is a rare disease classically described with scalp vertex aplasia cutis and terminal transverse limb defects. This syndrome is frequently misdiagnosed by taking each feature of the disease separately. A novel de novo missense variant in DLL4 (c.998G>A, p.Cys333Tyr) was identified by Whole Exome Sequencing (WES), and
Cabrera R, Montañez MYB, Gil-Quiñones SR, Beltrán AM, Santiago-Tovar N, Contreras-Bravo N, Fonseca-Mendoza DJ, Restrepo CM, Morel A.   +8 more
europepmc   +2 more sources

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Anatomical Study and Classification of Foramina of the Squamous Part of the Temporal Bone

Clinical Anatomy, EarlyView.
ABSTRACT The postglenoid foramen (PGF) is a rarely reported anatomical variant of the temporal bone, with limited data on its morphology, prevalence, and clinical relevance, particularly in non‐European populations. This study aimed to investigate the anatomy and frequency of foramina located on the squamous part of the temporal bone, including the PGF,
Tawanrat Paensukyen, Pattita Kanjanapaisan, Napawan Taradolpisut, Nutmethee Kruepunga, Benrita Jitaree, Pakpoom Thintharua, Arada Chaiyamoon, Athikhun Suwannakhan   +7 more
wiley   +1 more source

Trasplante de médula ósea. Indicaciones y controversias.

Oncología, 2006
Presentamos el caso de una paciente de sexo femenino, 6 años de edad, con diagnóstico de leucemia aguda mieloide, en el Instituto Oncológico Dr.
Guillermo Poulson V., Gerson Espinoza V., María Mercedes Poveda A., Jessica León   +3 more
doaj  

Congenital absence of humerus with preaxial terminal longitudinal hemimelia and hypoplasia of the scapula in a dog: a case report

Veterinární Medicína, 2014
A case of a unilateral forelimb congenital defect in a three-month-old female puppy dog with clinical and radiographic findings is described here. Congenital absence of humerus with preaxial terminal longitudinal hemimelia is a rare condition in human ...
F. Macrì, G. Rapisarda, G. Lanteri, S. Di Pietro, E. Auriemma, F. Marino   +5 more
doaj   +1 more source

Aplasias medulares congénitas [PDF]

Anales de Pediatría, 2010
Inherited aplastic anemias Abstract The inherited aplastic anaemias are a heterogeneous group of disorders characterized by bone marrow failure, frequent association with one or more somatic anomalies and increased risk of cancer. They are rare disorders, usually diagnosed at paediatric age, and have significant premature mortality.
Esteves, A, Freitas, O, Almeida, T, Rosado, L   +3 more
openaire   +3 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source