Results 71 to 80 of about 3,158 (217)
Birth Defects Research, Volume 116, Issue 7, July 2024.Abstract Background Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin–Chaudry–Moss syndrome and Fontaine–Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly ...
Emmanuelle Pannier +16 more
wiley +1 more source
Intracranial and whole brain volumes in infants with sagittal craniosynostosis [PDF]
, 2010 Single-suture craniosynostosis occurs in approximately1 in 2000 live births and has been associated with brain dysmorphology. It has been suggested that premature fusion of cranial sutures restricts and alters brain growth by limiting the space within ...
Smallmon, Erin
core
β-catenin/cyclin D1 mediated development of suture mesenchyme in calvarial morphogenesis [PDF]
, 2010 Background Mouse genetic study has demonstrated that Axin2 is essential for calvarial development and disease. Haploid deficiency of β-catenin alleviates the calvarial phenotype caused by Axin2 deficiency. This loss-of-function study provides
Anthony J Mirando +5 more
core +1 more source
International Journal of Osteoarchaeology, Volume 34, Issue 3, May/June 2024.Abstract This study is an osteobiography of a noble couple who were members of the “ruling elite” in the 18th‐century Joseon period, Korea. The archaeological context and historical records indicate that the couple lived and died during a period marked by strict observance of social hierarchy.
Eun Jin Woo +5 more
wiley +1 more source
Breaking bony bridges by physeal distraction [PDF]
, 1985 Physeal distraction for breaking bony bridges and the late treatment of long bone deformities in children near maturity, has been used in our Department since June, 1983.
Cañadell, J.M. (J. M.) +1 more
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Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies
American Journal of Medical Genetics Part A, Volume 194, Issue 2, Page 195-202, February 2024.Abstract Fetuses with RASopathies can have a wide variety of anomalies including increased nuchal translucency, hydrops fetalis, and structural anomalies (typically cardiac and renal). There are few reports that describe prenatal‐onset craniosynostosis in association with a RASopathy diagnosis.
Carolyn R. Serbinski +7 more
wiley +1 more source
Research advances in Apert syndrome
Journal of Oral Biology and Craniofacial Research, 2018 Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures.
Satrupa Das, Anjana Munshi
doaj +1 more source
Posterior positional plagiocephaly treated with cranial remodeling orthosis. [PDF]
, 2007 Since the recommendation that infants sleep in the supine position, there has been an increase in cases of posterior positional plagiocephaly.
Cavin, B. +5 more
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The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency [PDF]
, 2011 The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin.
Aleksandra Szczawinska-Poplonyk +5 more
core +2 more sources
Prevalence of craniosynostosis in Finland, 1987–2010: A population‐based study
Birth Defects Research, Volume 116, Issue 2, February 2024.Abstract Background Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population‐based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends.
Pia Vuola +5 more
wiley +1 more source