Results 61 to 70 of about 5,244 (207)

Brachymetatarsia as an Early Clue to Turner Syndrome

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Congenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Brachymetatarsia is a rare associated finding that may raise suspicion for Turner syndrome, particularly when diagnosis is delayed
Hounaida Mahfoud, Zaki Elhanchi
wiley   +1 more source

A case report describing insights into the imaging of Apert syndrome

Rare
Apert syndrome is a rare congenital autosomal dominant acrocephalosyndactyly type I syndrome which manifests in the form of various craniofacial, skeletal, and visceral anomalies.
Diksha Goyal, Poonam Sherwani
doaj   +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

Orthognathic Surgical Outcomes in Patients With and Without Craniofacial Anomalies [PDF]

, 2018
Purpose The objective of this study is to examine hospitalization outcomes after orthognathic surgery. This study tests the hypothesis that patients with craniofacial anomalies have higher billed hospital charges, longer lengths of stay, and increased ...
Allareddy, Veerasathpurush, Fletcher, Steven, Metalwala, Zohra, Okunseri, Christopher   +3 more
core   +1 more source

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome [PDF]

, 2015
Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2).
Bannas, Peter, Behzadi, Cyrus, Bernhardt, Alexander M, Blankenberg, Stefan, De Backer, Julie, Fuisting, Bettina, Hillebrand, Mathias, Kölbel, Tilo, Püschel, Klaus, Robinson, Peter N, Rybczynski, Meike, Schüler, Helke, Sheikhzadeh, Sara, von Kodolitsch, Yskert   +13 more
core   +2 more sources

Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens, Maria Mudau, Fahmida Essop, Amanda Krause   +3 more
wiley   +1 more source

CRISPR/Cas9 mediated FGFR2 down-regulation alleviatespremature closure of cranial suture in an Apert syndromemouse model

生物医学转化, 2021
Apert syndrome (AS) is characterized by synostosis of coronal sutures, midfacial hypoplasia,abnormity of brain, syndactyly of hands and feet. Majority of AS is caused by gain-of-function mutation of fibro‐blast growth factor receptor 2 (FGFR2).
Luo Fengtao, Xie Yangli, Li Can, Tan Qiaoyan, Du Xiaolan, Chen Lin   +5 more
doaj   +1 more source

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Apert Syndrome: orthopedic treatment [PDF]

, 2011
El Síndrome de Apert es un trastorno autosómico dominante, caracterizado por craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia de manos y pies.
Alonso Tajes, Francisco, López López, Daniel, López López, Luis, Rosende Bautista, Carolina   +3 more
core   +2 more sources

Divergent Mechanisms of Cranial Suture Ossification in Normal Development and Pathologic Fusion

Journal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.
ABSTRACT Cranial sutures are dynamic growth sites that balance bone growth with mesenchymal patency to accommodate cranial expansion during development. While intramembranous ossification has traditionally been considered the default mechanism of suture fusion, accumulating evidence demonstrates that endochondral pathways might also play a significant ...
Anvith Reddy, Sarah Qaddo, Penny Li, Barite Gautama, Erin Abbott, Yomna Dean, Anna Means, Michael Golinko, Christopher Bonfield, Wesley Thayer, Galen Perdikis, Matthew Pontell   +11 more
wiley   +1 more source