Results 61 to 70 of about 2,276 (204)

Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene. [PDF]

PLoS ONE, 2012
EEC (ectrodactyly, ectodermal dysplasia, clefting; OMIM 604292) is an autosomal dominant developmental disorder resulting mainly from pathogenic mutations of the DNA-binding domain (DBD) of the TP63 gene.
Jianhua Wei, Yang Xue, Lian Wu, Jie Ma, Xiuli Yi, Junrui Zhang, Bin Lu, Chunying Li, Dashuang Shi, Songtao Shi, Xinghua Feng, Tao Cai   +11 more
doaj   +1 more source

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

Split-hand/feet malformation: A rare syndrome

Journal of Family Medicine and Primary Care, 2016
Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod.
Bahubali D Gane, P Natarajan
doaj   +1 more source

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism [PDF]

, 2020
Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median cles of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges.
Jonathan Lévy, Jean-Marie Jouannic, Morrison, Ferdinand Dhombres, Julien Saada, Jean-Pierre Siffroi, Marie-France Portnoï, P Fenger   +7 more
core  

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

Deletion of 7q22 and ectrodactyly

, 1991
We report the case of an infant with 3-limb ectrodactyly and a deletion of most of 7q22. This observation, along with 4 similar cases from the literature, suggests the presence of a locus affecting limb differentiation in 7q22 near to the proximal ...
Rivera, H., Sanchez-Corona, J., Melendez-Ruiz, M.J., Burgos-Fuentes, V.R.   +3 more
core   +1 more source

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

, 2009
International audienceWe report on five male subjects with a triad of signs compatible with Hartsfield syndrome: ectrodactyly, holoprosencephaly, and mental retardation. Only six patients with this distinctive association have been reported over the past
Clarisse Baumann, de Silva, Deephti, Guy Van Vliet, van Vliet, Guy, Dubourg, Christèle, de Silva, Deepthi, Verloes, Alain, Mortier, Geert, Vilain, Catheline, Geert Mortier, Heinrichs, Claudine, Deephti de Silva, Baumann, Clarisse, Catheline Vilain, Christèle Dubourg, Alain Verloes, Claudine Heinrichs   +16 more
core   +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

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

, 2013
Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE
de Silva, Deepthi C, Simonis, Nicolas, Janssens, Sandra, Abramowicz, Marc, Dimitrov, Boyan, Lambert, Nelle, Kerr, Bronwyn, Van Vliet, Guy, Mortier, Geert, Smits, Guillaume, Vilain, Catheline, Migeotte, Isabelle, Heinrichs, Claudine, Lepage, Philippe, Perazzolo, Camille, Casimir, Georges   +15 more
core   +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