Results 51 to 60 of about 138,470 (296)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
BMC SurgeryBackground The purpose of this study was to analysis the nostril symmetry and nasal stability following secondary rhinoplasty performed with either nasal septal cartilage implantation (G1) or simple alar cartilage suspension and internal fixation (G2) in
Shuxia Dong +7 more
doaj +1 more source
Pleomorphic adenoma in an adolescent
Journal of Pharmacy and Bioallied Sciences, 2012 Pleomorphic adenoma generally occurs in the 4 th and 5 th decade of life. The adenoma is an uncommon presentation and is exceedingly rare in children and young adolescents.
Vinod Thangaswamy +5 more
doaj +1 more source
Palatal Mucoperiosteal Island Flaps for Palate Reconstruction [PDF]
Archives of Craniofacial Surgery, 2014 Many options are available to cover a palatal defect, including local or free flaps. The objective of this study was to evaluate the usefulness of palatal mucoperiosteal island flap in covering a palatal defect after tumor excision.Between October 2006 and July 2013, we identified 19 patients who underwent palatal reconstruction using a palatal ...
Kim, Hong Youl +5 more
openaire +3 more sources
The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study [PDF]
, 2022 Jeong Yeop Ryu +3 more
openalex +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Necrotizing sialometaplasia of the palate: A case report
Journal of Indian Academy of Oral Medicine and Radiology, 2014 Necrotizing sialometaplasia is a benign, self-limiting, reactive inflammatory disorder of the salivary tissue, which mimics malignancy both clinically and histopathologically.
Ashwarya Trivedi +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source