Results 81 to 90 of about 5,149 (199)

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Dowling-Degos Disease: Case Report and Review of the Literature [PDF]

, 2010
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech, Batycka-Baran, Aleksandra, Burgdorf, Walter H. C., Hryncewicz-Gwozdz, Anita   +3 more
core   +1 more source

Prosthetic rehabilitation of a Crouzon patient: A case report

Contemporary Clinical Dentistry, 2010
Crouzon syndrome is a rare genetic disorder, which can be defined as a variation of craniofacial dysostosis caused by the premature obliteration and ossification of two or more sutures.
Hanefi Kurt, Burç Gençel, Aydin C Kader   +2 more
doaj   +1 more source

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order.
K Nagaraju, E Ranadheer, P Suresh, S P Tarun   +3 more
doaj   +1 more source

Cortical Thickness in Crouzon–Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion

Plastic and Reconstructive Surgery, Global Open, 2020
Background:. Episodes of intracranial hypertension are associated with reductions in cerebral cortical thickness (CT) in syndromic craniosynostosis. Here we focus on Crouzon–Pfeiffer syndrome patients to measure CT and evaluate associations with type of ...
Alexander T. Wilson, BS, Catherine A. de Planque, MD, Sumin S. Yang, BS, Robert C. Tasker, MA, MD, FRCP, Marie-Lise C. van Veelen, MD, PhD, Marjolein H.G. Dremmen, MD, Henri A. Vrooman, PhD, Irene M.J. Mathijssen, MD, PhD   +7 more
doaj   +1 more source

Dosage‐dependent effects of FGFR2W290R mutation on craniofacial shape and cellular dynamics of the basicranial synchondroses

The Anatomical Record, Volume 308, Issue 7, Page 1944-1971, July 2025.
Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 syndromic associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains a challenge.
Heather A. Richbourg, Marta Vidal‐García, Katherine A. Brakora, Jay Devine, Risa Takenaka, Nathan M. Young, Siew‐Ging Gong, Amanda Neves, Benedikt Hallgrímsson, Ralph S. Marcucio   +9 more
wiley   +1 more source

Cardiac interventions in patients with achondroplasia: a systematic review. [PDF]

, 2020
Patients with achondroplasia and other causes of dwarfism suffer from increased rates of cardiovascular disease relative to the remainder of the population.
Choi, Jae Hwan, Gordon, Jonathan S, Maynes, Elizabeth J, O\u27Malley, Thomas J, Phan, Kevin, Sukhavasi, Amrita, Tchantchaleishvili, Vakhtang   +6 more
core   +1 more source

Síndrome de crouzon: fatores envolvidos no desenvolvimento neuropsicologico e na qualidade de vida Crouzon syndrome: factors related to the neuropsychological development and to the quality of life

Arquivos de Neuro-Psiquiatria, 2007
A síndrome de Crouzon é caracterizada por deformidade craniana, alterações faciais e exoftalmia. O retardo no desenvolvimento neuropsicomotor é observado em alguns casos.
Adriano Yacubian-Fernandes, Luis Gustavo Ducati, Mateus Violin Silva, Dagma Venturini Marques Abramides, Gimol B. Perosa, Aristides Palhares, Roberto C. Gabarra, Alcir Giglio, Luis Portela, João Luiz P. Marinello, José Píndaro P. Plese, Silvio Antonio Zanini   +11 more
doaj   +1 more source

Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature

Case Reports in Dentistry, 2020
Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface ...
Farnoosh Mohammadi, Afrooz Javanmard, Hamid Mojtahedi   +2 more
doaj   +1 more source