Results 51 to 60 of about 6,061 (174)

Fraser of cryptophthalmosis syndrome: A case report [PDF]

, 2004
Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B., Golalipour, M.-J., Haidary, K., Khoury, E.   +3 more
core  

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly. [PDF]

, 2016
Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the ...
Farkas, Katalin, Horváth, Emese, Knox, Rachel, Nagy, Nikoletta, Parker, Victoria, Semple, Robert, Sulák, Adrien, Széll, Márta, Tripolszki, Kornélia   +8 more
core   +3 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Clinical Features of Syndactyly and Surgical Treatment of Associated Complications

Turkish Journal of Plastic Surgery
Introduction: Syndactyly is a common congenital deformity with an incidence of 1/2000–3000 with a male predominance. Several surgical approaches were described for various clinical presentations.
Alper Geyik, Ozge Eren, Esra Aydın, Mustafa Yilmaz   +3 more
doaj   +1 more source

Surgical treatment of syndactilia and our results

Acta Orthopaedica et Traumatologica Turcica, 2021
Between the years 1992 - 1996, 16 patients with 33 syndactyly webs had undergone surgery at our institution. The digits seperated by multiple zig-zag incisions. For web reconstruction, Bauer s dorsal rectanguler flap is used. Mean follow-up period was 15,
Taskin Altay, Haluk Altiok, Ahmet Kaya, M. Rifki Us, Hasan Ozturk   +4 more
doaj  

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

Frontiers in Genetics, 2020
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and
Katrien Stouffs, Katrien Stouffs, Patrick Verloo, Stefanie Brock, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Anna C. Jansen, Marije E.C. Meuwissen, Marije E.C. Meuwissen   +11 more
doaj   +1 more source

Long‐Term Outcomes of Deep Brain Stimulation in Woodhouse–Sakati Syndrome

Movement Disorders, EarlyView.
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with distinctive neuroendocrine manifestations, with dystonia being the most common. No clear guidelines are available for the treatment of dystonia in WSS. Objective The aim was to analyze the impact of deep brain stimulation (DBS) on WSS‐associated dystonia ...
Hend Alhodaif, Yara Alkhodair, Faisal Alotaibi, Salma Alqahtani, Saeed Bohlega, Amaal Aldakheel   +5 more
wiley   +1 more source

Treatment of congenital deformities of cleft foot and syndactyly: A case report and review of the literature

Turkish Journal of Plastic Surgery
Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot.
Nuh Evin, Yasir Vural, Can Koç, Gökçer Uzer   +3 more
doaj   +1 more source

Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate [PDF]

, 2015
Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans.
Arzi, B, Bannasch, DL, Brand, HA, Cox, TC, Deleyiannis, FWB, Feingold, E, Karmi, N, Leslie, EJ, Marazita, ML, McHenry, T, Murray, JC, Narayan, N, Safra, N, Sanchez, C, Shaffer, JR, Sliskovic, S, Wade, CM, Wang, X, Willet, CE, Wolf, ZT   +19 more
core   +5 more sources

Case Report: Expanding the Phenotypic Spectrum of Timothy Syndrome Type 1: A Sporadic Case With a de novo CACNA1C Pathogenic Variant and Segmental Ileal Dilatation

Frontiers in Pediatrics, 2021
Background: Long QT syndactyly syndrome (long QT syndrome type 8), also known as Timothy Syndrome (TS) was first described in 1994 with still <50 case reported in the literature.
Ahmed A. Nugud, Nermeen Mahmoud ELkholy, Awad Alkarim Omar, Abid Qazi, Christos Tzivinikos, Christos Tzivinikos, Nidheesh Chencheri, Sabina Khan, Muhammad Eyad Ba'Ath, Muhammad Eyad Ba'Ath   +9 more
doaj   +1 more source