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A Syndrome Affecting All Five Sense Organs: A Rare Congenital Disorder of Kabuki Makeup Syndrome With Multiple Pre-auricular Skin Tags.
Cureus
September 2024
Pediatrics, Saveetha Medical College and Hospitals, Saveetha Institute of Technical and Medical Sciences, Saveetha University, Chennai, IND.
Kabuki syndrome is an autosomal dominant disorder characterized by distinct facial features, including long palpebral fissures, a short columella with a flat, broad nasal tip, ptosis, and cleft lip/palate. The syndrome was named for the resemblance of the facial features to the make-up worn by traditional Kabuki performers. We report the case of a 10-month-old female infant admitted for cleft palate repair.
View Article and Find Full Text PDFSF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.
Am J Med Genet A
February 2025
Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.
Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter- and intrafamilial variability has been observed.
View Article and Find Full Text PDFFBLN2 is associated with Goldenhar syndrome and is essential for cranial neural crest cell development.
Ann N Y Acad Sci
July 2024
Department of Otolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
Article Synopsis
- Goldenhar syndrome is a rare malformation caused by problems in the first two pharyngeal arches, with unclear genetic and environmental influences.* -
- Researchers analyzed a family with Goldenhar syndrome using whole-exome sequencing, identifying FBLN2 as a potential gene involved in the condition.* -
- Studies on zebrafish lacking FBLN2 showed abnormal craniofacial development, suggesting FBLN2 affects cartilage growth and bone signaling, which could lead to new treatment options for related conditions.*
Functional and Genetic Analyses Unveil the Implication of in Hemifacial Microsomia.
Int J Mol Sci
April 2024
Department of Otolaryngology-Head and Neck Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Hemifacial microsomia (HFM) is a rare congenital genetic syndrome primarily affecting the first and second pharyngeal arches, leading to defects in the mandible, external ear, and middle ear. The pathogenic genes remain largely unidentified. Whole-exome sequencing (WES) was conducted on 12 HFM probands and their unaffected biological parents.
View Article and Find Full Text PDFFirst Report of Causing Anthracnose Fruit Rot on Pepper in Ontario, Canada.
Plant Dis
April 2024
Ontario Ministry of Agriculture Food and Rural Affairs, 124612, Guelph, Ontario, Canada;
Anthracnose fruit rot affecting field peppers ( L.) has been reported in Ontario, Canada, leading to significant crop losses of up to 80% over the past three years. Ten symptomatic fruits per field, exhibiting one or more soft, sunken lesions covered with salmon-colored spore masses (Fig.
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