Results 201 to 210 of about 385,840 (284)

Concurrent mutations in RNU4ATAC, PLEC, and CD96 in a child with severe short stature and skeletal dysplasia: a case report. [PDF]

Ital J Pediatr
Wang H, Wang J, Chen D.
europepmc   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, Volume 46, Issue 10, Page 1557-1564, September 2026.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

A homozygous variant in <i>FGFR3</i> causing lethal skeletal dysplasia. [PDF]

Sudan J Paediatr
Rahbeeni Z, Al-Shahrani H, Noon M, Mohamed S.   +3 more
europepmc   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

Prenatal Diagnosis, Volume 46, Issue 10, Page 1648-1654, September 2026.
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann, Tanja Richter, Nevena Krstić, Markus Hoopmann, Karl Oliver Kagan, Lena‐Sophie Menig‐Benzig, Simone Olivieri, Olaf Riess, Andreas Dufke   +8 more
wiley   +1 more source

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia. [PDF]

Eur J Pediatr
Daşar T, İmren G, Yıldız AE, Demir GÜ, Utine GE, Yılmaz G, Kiper PÖŞ.   +6 more
europepmc   +1 more source

Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran. [PDF]

BMC Musculoskelet Disord
Shashaani N, Javadi V, Rahmani K, Shiari R.   +3 more
europepmc   +1 more source

Indications for cesarean delivery among patients with life‐limiting fetal diagnoses

Pregnancy, Volume 2, Issue 5, September 2026.
Abstract Introduction Mode of delivery is uniquely complex when a neonate is not expected to survive after birth. Cesarean delivery (CD) generally confers increased maternal morbidity but may be pursued to mitigate intrapartum fetal risk. Prior studies have reported elevated CD rates among patients with a life‐limiting fetal diagnosis (LLFD) but have ...
Halle C. Petrie, Alexandra C. Sundermann, B. Wade Hamilton, Allison M. McCarthy, Emily A. Morris, Luke A. Gatta   +5 more
wiley   +1 more source

Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia. [PDF]

Cell Mol Life Sci
Dinesh NEH, Rousseau J, Mosher DF, Strauss M, Mui J, Campeau PM, Reinhardt DP.   +6 more
europepmc   +1 more source

In Vivo Base Editing Partially Rescues Bone Dysplasia in a Mouse Model of Hutchinson‐Gilford Progeria Syndrome

Aging Cell, Volume 25, Issue 9, September 2026.
Hutchinson‐Gilford progeria syndrome (HGPS) is a premature aging disorder caused by a mutation in LMNA that produces the toxic progerin protein. In this study, an adenine base editor delivered via AAV9 achieved partial gene correction in HGPS mice when given at two weeks of age, partially rescuing bone structural and gene expression parameters and ...
Wayne A. Cabral, Caleb M. Grenko, Diana Yeritsyan, Indeevar Beeram, Shubham Laiwala, Lukas R. Johnson, Urraca L. Tavarez, Tingfen Yan, Stephen M. Wincovitch, Luke W. Koblan, Xin D. Gao, Meirui An, Narisu Narisu, Leslie G. Biesecker, David R. Liu, Ara Nazarian, Francis S. Collins, Michael R. Erdos   +17 more
wiley   +1 more source