Results 161 to 170 of about 50,678 (282)

Acute Pericarditis in a Patient With Poland Syndrome. [PDF]

Cureus
Patel GS, Gupta R.
europepmc   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.
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

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Uncovering oral and maxillofacial clues in congenital insensitivity to pain with anhidrosis: what can sibling cases teach us? [PDF]

BMC Oral Health
Temur KT.
europepmc   +1 more source

Timing of Secondary Palate Fusion in Human Embryos and Fetuses

Birth Defects Research, Volume 118, Issue 2, February 2026.
ABSTRACT Introduction The human face develops through a complex sequence of growth and fusion events involving multiple pharyngeal arch derivatives. Disruptions in these processes can result in congenital anomalies such as cleft lip and/or palate (CL/P), which occur in approximately 1.6 per 1000 live births in Europe.
Puck Pauline Mulder, Jess Johanna Peters, Yousif Dawood, Karl Jacobs, Sophie Caroline Visser, Jaco Hagoort, Jermo Hanemaaijer‐van der Veer, Robert Hemke, Eva Pajkrt, Roelof‐Jan Oostra, Corstiaan Cornelis Breugem, Bernadette Simone de Bakker   +11 more
wiley   +1 more source

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES. [PDF]

Acta Ortop Bras
Matos MA, Lopes PS.
europepmc   +1 more source

The Role of Immune Infiltration and Oxidative Stress in the Progression of Cerebral Cavernous Malformation

Brain and Behavior, Volume 16, Issue 2, February 2026.
Mechanism of rupture hemorrhage in cerebral cavernous malformations. Environmental and immune factors promote the progression of lesions and induce the risk of abnormal formation or rupture of cerebrovascular vessels. Abstract Purpose of Review To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and ...
Xuesai Zhu, Yizhi Yao, Tengbo Yu, Xiao Xiao   +3 more
wiley   +1 more source

Surgical Correction of Simple Cutaneous Syndactyly of the Third and Fourth Fingers in a Three-Year-Old Girl: A Case Report. [PDF]

Cureus
Szymkiewicz S.
europepmc   +1 more source

Congenital hand deformities.

International surgery, 1966
openaire   +1 more source

Impacts of exoprosthesis use in dogs with partial amputation and limb malformations: a systematic review. [PDF]

Front Vet Sci
de Souza MMN, de Lima JNG, de Menezes DJA, Carvalho LRRA.   +3 more
europepmc   +1 more source