Results 81 to 90 of about 6,061 (174)

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies

Prenatal Diagnosis, EarlyView.
Nicole R. Legro, Lylach Haizler‐Cohen, William Genthe, Victoria Greenberg   +3 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, Volume 109, Issue 4, Page 730-741, April 2026.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Fingers Matter: The Development of Strategies for Solving Arithmetic Problems in Children With Apert Syndrome

Frontiers in Education, 2019
There is very little research on cognitive outcomes and challenges for children with Apert syndrome. This paper describes the findings of a 2½-year longitudinal exploration of the development of arithmetic skills in 10 children with Apert syndrome, who ...
Caroline Hilton
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

New Classification of Polydactyly of the Foot on the Basis of Syndactylism, Axis Deviation, and Metatarsal Extent of Extra Digit

Archives of Plastic Surgery, 2013
Background Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results.
Hyo Hyun Seok, Ji Ung Park, Sung Tack Kwon   +2 more
doaj   +1 more source

Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]

, 2016
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C., Bruno, D., Chong, C., Feng, J., Hahn, C., Klingler-Hoffmann, M., Lee, Y., Lipsett, J., Mcphee, A., Nataren, N., Schreiber, A., Schwarz, Q., Scott, H.   +12 more
core   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Poland Syndrome With Dextrocardia: A Rare Association Leading to Complex Cardiopulmonary Challenges

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Patients with Poland syndrome, especially those with left‐sided defects accompanied by dextrocardia, may be predisposed to significant respiratory and cardiac complications. This case underscores the importance of early recognition, thorough cardiopulmonary assessment, and proactive planning for airway management and ventilatory support to ...
Sai Kommineni, Anna Morse, Saisreeja Jekkireddy, Shyam Ganti, Maneesh Gaddam   +4 more
wiley   +1 more source

Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020

Andrology, Volume 14, Issue 3, Page 880-889, March 2026.
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu, Gao Yuyang, Xu Wenli, Li Wenyan, Liu Zhen, Zhou Jiayuan, Zhu Jun, Dai Li   +7 more
wiley   +1 more source

SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE

Jurnal Rekonstruksi dan Estetik, 2019
Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Williams Mesang, Agus Santoso Budi, Magda Rosalina Hutagalung   +2 more
doaj   +1 more source