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A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the Gene.
Mol Syndromol
February 2024
Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, Dr. Juan I. Menchaca Civil Hospital of Guadalajara, Guadalajara, Mexico.
Article Synopsis
- The study discusses a Mexican family with two different genetic disorders linked to a specific pathogenic variant: the son has ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC3), while the father has acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome.
- Clinical presentations showed the son with features like ectodermal defects and tetramelic ectrodactyly, and the father with severe nasolacrimal duct obstruction and dental issues, both carrying the same genetic variant.
- The findings highlight the variability of genetic disorders within families and emphasize the importance of considering these differences in genetic counseling, specifically how the p
Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality.
Front Genet
October 2023
Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, Beijing, China.
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare autosomal dominant inherited disease caused due to mutations in the gene. More commonly, mutations in the gene result in ectodermal dysplasia and/or orofacial cleft. ADULT syndrome is a type of ectoderm-related tissue dysplasia.
View Article and Find Full Text PDFShaken adult syndrome due to ocean wave: an autopsy case.
Forensic Sci Med Pathol
March 2024
Department of Legal Medicine, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan.
Severe intracranial trauma during torture or assault is reportedly caused by shaken adult syndrome. However, intracranial traumas caused by natural forces, excluding human factors and collision impact, are extremely rare. We report an autopsy case of shaken adult syndrome caused by ocean wave forces.
View Article and Find Full Text PDFAbsent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes and .
Ophthalmic Genet
February 2024
Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunisia.
Article Synopsis
- Ectrodactyly is a rare limb malformation that can occur alone or as part of syndromes, such as ADULT syndrome, which includes traits like ectodermal dysplasia and lacrimal duct issues.
- A case study reported a patient with ADULT syndrome showing additional eye issues and congenital cone dystrophy, alongside her sister who had the same condition.
- Whole Exome Sequencing revealed two important genetic variants, linking the patient's ectrodactyly and the sisters' cone dystrophy to different genetic causes.
Cerebral hemorrhage caused by shaking adult syndrome? Evidence from biomechanical analysis using 3D motion capture and finite element models.
Int J Legal Med
November 2022
Shanghai Key Laboratory of Forensic Medicine, Ministry of Justice, Peoples Republic of China, Academy of Forensic Science, 1347 West Guangfu Road, 200063, Shanghai, China.
The present study combined three-dimensional (3D) motion capture with finite element simulation to reconstruct a real shaking adult syndrome (SAS) case and further explore the injury biomechanics of SAS. The frequency at which an adult male can shake the head of another person, head-shaking amplitude, and displacement curves was captured by the VICON 3D motion capture system. The captured shaking frequency and shaking curve were loaded on the total human model for safety (THUMS) head to simulate the biomechanical response of brain injury when a head was shaken in anterior-posterior, left-right, and left anterior-right posterior directions at frequencies of 4 Hz (Hz), 5 Hz, 6 Hz, and 7 Hz.
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