Results 51 to 60 of about 1,690 (126)

Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data

Ultrasound in Obstetrics &Gynecology, Volume 66, Issue 3, Page 282-289, September 2025.
ABSTRACT Objectives To evaluate: (i) the performance of the National Health Service (NHS) phenotypic eligibility criteria for prenatal exome sequencing (pES); (ii) the diagnostic yield of individual NHS criteria; (iii) the diagnostic yield when one or multiple NHS criteria were met; and (iv) the performance of the NHS criteria compared with that of ...
K. Reilly, D. L. Rolnik, S. Allen, A. Sotiriadis, S. Ong, S. Sonner, G. V. Blayney, M. Fernando, T. Van Mieghem, A. Borrell, S. Langlois, F. Mone, Collaborators, A. Khalil, U. Agarwal, S. Nanda, K. W. Choy, Y. Yaron, R. J. Martinez‐Portilla, F. R. Grati, E. Westenius, E. Iwarsson, K. O. Kagan, R. Pooh   +23 more
wiley   +1 more source

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.
ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

Routine 36‐week scan: diagnosis of fetal abnormalities

Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 4, Page 427-435, April 2025.
ABSTRACT Objectives To investigate further the incidence and types of fetal abnormality identified at a routine 36‐week ultrasound examination, which had not been diagnosed in previous scans at 20 weeks and 12 weeks' gestation, and to report the fetal abnormalities that are diagnosed only postnatally.
A. Syngelaki, R. Mitsigiorgi, J. Goadsby, K. Hamed, R. Akolekar, K. H. Nicolaides   +5 more
wiley   +1 more source

Midterm results after allogeneic simple limbal epithelial transplantation from deceased‐donor eyes in patients with persistent corneal epithelial defects due to limbal stem cell deficiency

Acta Ophthalmologica, Volume 103, Issue 2, Page e125-e135, March 2025.
Abstract Background This study aims to characterize the clinical outcomes after allogeneic simple limbal epithelial transplantation (alloSLET) utilizing tissue from cadaveric donor eyes to address persistent corneal epithelial defects caused by limbal stem cell deficiency.
Jana C. Riedl, Joanna Wasielica‐Poslednik, Bert C. Giers, Francesco Buonfiglio, Norbert Pfeiffer, Aytan Musayeva, Adrian Gericke   +6 more
wiley   +1 more source

Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study

Prenatal Diagnosis, Volume 45, Issue 1, Page 3-14, January 2025.
ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit.
Arda Arduç, Sandra J. B. van Dijk, Feikje J. ten Cate, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. van Maarle, Eva Pajkrt   +7 more
wiley   +1 more source

Goltz syndrome: A newborn with ectrodactyly and skin lesions

Indian Journal of Dermatology, 2015
Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus ...
Shatanik Sarkar, Chaitali Patra, Amit Das, Sutirtha Roy   +3 more
doaj   +1 more source

A Case of Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate Syndrome Associated with Hydrocephaly

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate syndrome (EEC) is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia and orofacial clefts (cleft lip/ palate). A few cases have been reported in literature.
Buket Uysal Aladag, Fatma Hilal Yilmaz, Nadir Kocak, Ali Annagur   +3 more
doaj  

A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM)

Journal of Biomedicine and Translational Research, 2018
Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case
Nydia Rena Benita Sihombing, Asri Purwanti, Agustini Utari   +2 more
doaj   +1 more source

Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report

Frontiers in Genetics
SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits.
Daria Akimova, Tatiana Markova, Maria Ampleeva, Mikhail Skoblov   +3 more
doaj   +1 more source

Ectrodactilia em cão: relato de caso Ectrodactyly in dog: case report

Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2007
Descreve-se um caso de ectrodactilia em um cão, sem raça definida e dois meses de idade. No exame clínico e radiográfico, foi verificada a separação óssea e de tecidos moles entre o segundo e o terceiro dígitos, estendendo-se proximalmente até a região ...
M.P. Ferreira, M.M. Alievi, C.A.C. Beck, J. Voll, M.S. Muccillo, C. Gomes   +5 more
doaj   +1 more source