Results 51 to 60 of about 34,364 (292)
High Resolution Epigenomic Atlas of Early Human Craniofacial Development
, 2017 Defects in embryonic patterning resulting in craniofacial abnormalities are common birth defects affecting up to 1 in 500 live births worldwide, and are mostly non-syndromic.
Jeffrey Kron +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
Postnatal Craniofacial Skeletal Development of Female C57BL/6NCrl Mice
Frontiers in Physiology, 2017 The craniofacial skeleton is a complex and unique structure. The perturbation of its development can lead to craniofacial dysmorphology and associated morbidities.
Xiaoxi Wei +5 more
doaj +1 more source
Craniofacial pain and anatomical abnormalities of the nasal cavities
Brazilian Journal of Otorhinolaryngology, 2005 The causal relation between anatomical variations of the nose and headaches and facial pain is analyzed through literature review of the topic. The pathogenesis that can be involved in this relation proves to be wider than simple alteration of nasal septum and turbinates that can cause mechanical stimulus through contact between these structures, which
de Mendonça, Jeferson Cedaro +1 more
openaire +2 more sources
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Medical Journal of Dr. D.Y. Patil VidyapeethKBG syndrome is a rare genetic disorder manifested by craniofacial dysmorphism, skeletal abnormalities, short stature, and developmental delay. The anesthetic management may be challenging due to associated craniofacial and other skeletal abnormalities ...
Sana Y. Hussain +3 more
doaj +1 more source
Frontiers in Physiology, 2012 Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities.
Lotta eVeistinen +5 more
doaj +1 more source
Simulation of Interactive Cutting Tool for Craniofacial Osteotomy Planning
, 2007 Engineers and scientists from many fields are using three-dimensional reconstruction for visualization and analysis of physical data. Recent advances in medical imaging and surgical techniques have made possible the correction of severe facial ...
Zulkepli Majid +7 more
core +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Introduction: Anatomic malformations associated with craniofacial abnormalities (CFAs) and skeletal dysplasias (SDs) contribute to airway obstruction during sleep in children, which may be treated surgically, with positive airway pressure (PAP) therapy,
Chawla, JK +5 more
core +1 more source