نتایج جستجو برای: wormian bones

تعداد نتایج: 19179  

Journal: :Journal of forensic sciences 2016
Marcos Paulo Salles Machado Márcia Pereira Simões Thiago de Oliveira Gamba Isadora Luana Flores Francisco Haiter Neto Carlos Henrique Durão Eduardo Daruge Júnior Eugénia Cunha

Wormian bones (WB) are irregular small cranial ossicles found along suture lines and fontanels. In Brazil, gunshot wounds to the skull are quite common in young individuals. Nevertheless, as far as we know, this is the first report of a WB giving an erroneous aspect of gunshot entrance due to its displacement position. The present manuscript describes the case of a Brazilian young man who died ...

Journal: :Acta orthopaedica Belgica 2009
Saraswathivilasam S Suresh

Cleidocranial dysplasia or dysostosis (CCD) is a condition characterised by failure of membranous ossification resulting in absence or pseudarthrosis of the clavicle, open fontanelles, wormian bones and supernumerary teeth. The aetiology though not completely known is thought to be due to a CBFA1 (core binding factor activity 1) gene defect on the short arm of chromosome 6p21. CBFA1 is essentia...

Journal: :Egyptian journal of forensic sciences 2023

Abstract Background The types of Wormian bones may play a role in population affinity and differential diagnosis several clinical syndromes. This study investigates the distribution adult skulls, their correlation to sex, affinity, impairments based on literature. One hundred ten Turkish 80 (72.7%) males 30 (27.2%) females, were investigated according type, frequency, location, sex. Horizontal ...

Journal: :The Journal of rheumatology 2015
Gabriella Giancane Christine P Diggle Elizabeth G Legger Janneke Tekstra Berent Prakken Arjan B Brenkman Ian M Carr Alexander F Markham David T Bonthron Nico Wulffraat

Hypertrophic osteoarthropathy (HO) is a disorder characterized by changes to the skin and bones, and occurs either in a rare familial primary form [primary hypertrophic osteoarthropathy, (PHO)], also called pachydermoperiostosis (PDP), with a 9:1 male:female prevalence ratio, or more commonly secondary to an underlying pathology1. Key features include digital clubbing, periostosis with bone and...

2017
Ashish B. Shah Breann K Tisano Osama Elattar Jackson Rucker Staggers Sameer Naranje

Introduction Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency...

2013
A Kamoun-Goldrat A Marchadier M Le Merrer M Goldberg

Introduction Osteogenesis imperfecta (OI) is a human genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. There is variable association of typical extra skeletal manifestations with the disorder, including blue sclera, dentinogenesis imperfecta, hyperlaxity of lig...

Journal: :Archives of disease in childhood 1955
J M NAYLOR

Case Report A girl aged 44 years was admitted to the Paediatric Unit, Clatterbridge HospitaL Bebington, Cheshire, on February 8, 1954. She had been taken to her family doctor for treatment of a furuncle below the right eye and he had referred her as a case of ceinisn. The child weighed 74 lb. at birth and was born in West Kirby, Wirral. She was breast fed for one month and then the family moved...

2017
Evelise Brizola Marina Bauer Zambrano Bruna de Souza Pinheiro Ana Paula Vanz Têmis Maria Félix

OBJECTIVE To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. METHODS In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentin...

Journal: :American Journal of Medical Genetics. Part a 2008
Smita M Purandare Roberto Mendoza-Londono Svetlana A Yatsenko Dobrawa Napierala Daryl A Scott Tarek Sibai Kari Casas Patrick Wilson Jiyun Lee Razia Muneer Joe C Leonard Faridali G Ramji Ralph Lachman Shibo Li Pawel Stankiewicz Brendan Lee John J Mulvihill

Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of CCD including wormian bones, delayed fon...

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