Results 51 to 60 of about 1,356 (192)
A familial case of cleidocranial dysostosis presenting upper limb ischemia
São Paulo Medical JournalCONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented ...
Walter Campos Júnior +4 more
doaj +1 more source
First and second branchial arch syndromes: multimodality approach [PDF]
, 2018 First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches.
Gudinchet, François +6 more
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Abnormal mandibular growth and the condylar cartilage [PDF]
, 2017 Deviations in the growth of the mandibular condyle can affect both the functional occlusion and the aesthetic appearance of the face. The reasons for these growth deviations are numerous and often entail complex sequences of malfunction at the cellular ...
Luder, Hans. U. +3 more
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Hemifacial Microsomia: A Mini-Review and Case Report [PDF]
, 2023 Objectives Hemifacial microsomia (HFM) is an asymmetric craniofacial malformation, which results from hypoplasia of the first and second branchial arch components and is characterized by a wide spectrum of phenotypic expressions, varying from the ...
Behnia, Hossein +3 more
core +2 more sources
American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah +6 more
wiley +1 more source
Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome
International Archives of Otorhinolaryngology, 2013 Summary Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (
Alexandra Kolontai de Sousa Oliveira +3 more
doaj +1 more source
Annals of Human Genetics, Volume 89, Issue 5, Page 333-341, September 2025.ABSTRACT This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated with sebaceous glands in the face and chest, which produce an oily substance called sebum.
Maurice A. M. Van Steensel
wiley +1 more source
Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement [PDF]
, 2008 No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/61218/1/2074_ftp ...
Aylsworth +9 more
core +1 more source
The emerging roles of ribosome biogenesis in craniofacial development. [PDF]
, 2014 Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core +2 more sources
American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger +4 more
wiley +1 more source