Results 181 to 190 of about 62,388 (273)

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +2 more sources

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia. [PDF]

Eur J Hum Genet
Jacob P, Singh S, Bhavani GS, Gowrishankar K, Narayanan DL, Nampoothiri S, Patil SJ, Soni JP, Muranjan M, Kapoor S, Dhingra B, Bhat BV, Bajaj S, Banerjee A, Mamadapur M, Hariharan SV, Kamath N, Shenoy RD, Suri D, Shukla A, Dalal A, Phadke SR, Nishimura G, Mortier G, Shah H, Girisha KM.   +25 more
europepmc   +1 more source

Clinical and Neurodevelopmental Course in a Case of EFNB1‐Related Craniofrontonasal Syndrome With Unrepaired Craniosynostosis

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
A 14‐year‐old individual presented with an uncorrected bicoronal craniosynostosis that was diagnosed during clinical examination. She had craniofrontonasal syndrome (CFNS) with facial dysmorphology, microcephaly, and mild intellectual disability. Her CFNS was explained by a likely pathogenic variant in EFNB1.
Dominique L. Assing, Danielle E. Jolly, Sarah Gluschitz, Beverly Nelson, Dong Li, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Andrew K. Sobering   +7 more
wiley   +1 more source

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

Structured Reporting of Skeletal Survey in Skeletal Dysplasia. [PDF]

Indian J Radiol Imaging, 2023
Sodhi KS.
europepmc   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

Severe pulmonary hypertension in a small-for-date neonate with skeletal dysplasia. [PDF]

BMJ Case Rep
Mohamed K, Bayoumi MAA, Rahmath MR, Elmalik EE.   +3 more
europepmc   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 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

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source