Results 71 to 80 of about 2,580 (168)

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Kabuki Syndrome

Applied Radiology
Abstract Kabuki syndrome is a rare congenital disorder with a predilection for affecting the skeletal, gastrointestinal, and cardiovascular systems, as well as causing intellectual disability and developmental delay. Key imaging findings include skeletal findings such as craniofacial and inner ear abnormalities.
Neumann D, Karnik R.
europepmc   +2 more sources

Kabuki make-up syndrome with unilateral renal agenesis

The Turkish Journal of Pediatrics, 2009
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome with a diagnosis that is dependent upon clinical findings. Recognition of this entity is based upon unique facial appearance, including long palpebral fissures with ...
Rasim Ozgür Rosti, Hülya Kayserili
doaj  

Case Report: Exploring KMT2D mutation in Shone syndrome

Frontiers in Cardiovascular Medicine
IntroductionShone syndrome is a rare congenital heart disease characterized by multilevel left-sided obstructive lesions. KMT2D variants cause Kabuki syndrome and are frequently associated with left-sided obstructive congenital heart defects, but their ...
Peiwen Cheng, Corlina Matthew, Guozhen Wang, Xia Xie, Yong An   +4 more
doaj   +1 more source

Surgical treatment of hip dislocation in Kabuki syndrome: Use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency

Journal of Children's Orthopaedics, 2012
Purpose Kabuki syndrome is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, postnatal growth deficiency and mental retardation. This report reviews our results in the operative
Akifusa Wada, Tomoyuki Nakamura, Toru Yamaguchi, Haruhisa Yanagida, Kazuyuki Takamura, Yutaka Oketani, Hideaki Kubota, Toshio Fujii   +7 more
doaj   +1 more source

Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report

Surgical Case Reports, 2019
Background Biliary atresia (BA) cases are generally not associated with congenital abnormalities. However, accurate diagnosis of BA is often challenging because the histopathological features of BA overlap with those of other pediatric liver diseases and
Daisuke Masui, Suguru Fukahori, Tatsuki Mizuochi, Yoriko Watanabe, Kaori Fukui, Shinji Ishii, Nobuyuki Saikusa, Naoki Hashizume, Naruki Higashidate, Saki Sakamoto, Aiko Takato, Koh-ichiro Yoshiura, Yoshiaki Tanaka, Minoru Yagi   +13 more
doaj   +1 more source

Intervenção fonoaudiológica na síndrome de kabuki: relato de caso Language intervention in the Kabuki syndrome: case report

Revista CEFAC, 2010
TEMA: este trabalho teve como objetivo descrever o processo de intervenção fonoaudiológica em um caso de síndrome de Kabuki, com ênfase na terapia de linguagem.
Maria Cláudia Brito, Andréa Regina Nunes Misquiatti   +1 more
doaj  

Kabuki Syndrome

Ear, Nose & Throat Journal, 1998
A H, Olney, G B, Schaefer, P, Kolodziej
openaire   +2 more sources

Kabuki syndrome [PDF]

, 2020
openaire   +3 more sources

P274: Development of a clinical global impressions (CGI) scale for individuals with Kabuki syndrome

Genetics in Medicine Open
Dima Qu'd, Kavya Avancha, Lauren Meier, Clara Tang, Jessica Weatherstone, Brittany Simpson, Jacqueline Harris   +6 more
doaj   +1 more source