نتایج جستجو برای: craniofacial anomalies

تعداد نتایج: 52309  

Journal: :American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2013

Journal: :Pediatric dentistry 2004
Peter J De Coster Luc C Martens Anne De Paepe

Mutations in the genes encoding fibrillin, an extracellular matrix protein involved in providing elastic properties to the connective tissues, may result in specific craniofacial and oral anomalies. A number of craniofacial (retrognathia, dolichocephaly, high palate) and dental (root deformity, pulp calcification) manifestations are considered pathognomic for the Marfan syndrome (MFS), a condit...

2016
Ramesh Kumaresan Balamanikanda Srinivasan Mohan Narayanan Navaneetha Cugati Priyadarshini Karthikeyan

Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is a rare congenital anomaly of unclear etiology and characterized by craniofacial anomalies such as hemifacial microsomia, auricular, ocular and vertebral anomalies. In many cases, this syndrome goes unnoticed due to a lack of knowledge about its features and because of its associated wide range of overlapping anomalies. Herewith, we prese...

Journal: :iranian journal of otorhinolaryngology 0
shahin abdollahi fakhim department of otorhinolaryngology head and neck surgery, tabriz university of medical sciences, tabriz, iran. nikzad shahidi department of otorhinolaryngology head and neck surgery, tabriz university of medical sciences, tabriz, iran. alireza lotfi department of otorhinolaryngology head and neck surgery, tabriz university of medical sciences, tabriz, iran.

introduction: orofacial clefts are among the most common congenital anomalies. patients presenting with orofacial clefts often require surgery or other complex procedures. a cleft lip or palate can be a single anomaly or a part of multiple congenital anomalies. the reported prevalence of cleft disease and associated anomalies varies widely across the literature, and is dependent on the diagnost...

Journal: :Clinical genetics 2013
A F Goodwin S Oberoi M Landan C Charles J Groth A Martinez C Fairley L A Weiss W E Tidyman O D Klein K A Rauen

Cardio-facio-cutaneous syndrome (CFC) is a RASopathy that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. CFC is caused by activating mutations in the Ras/mitogen-activated protein kinase (MAPK) signaling pathway that is downstream of receptor tyrosine kinase (RTK) signaling. RTK signaling is known to play a central role in craniofaci...

Journal: :Indian pediatrics 1994
M Bhardwaj M Rohtagi

Studies on children treated for craniosynostosis and hydrocephalus have focussed mainly on medical aspects in the past. However, in recent years the intellectual and social development of such children are also being studied. These children suffer from rejection since birth, due to obvious gross craniofacial deformity, brain anomalies and mental retardation(l). The intellectual deterioration is...

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