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Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.
Medicina (Kaunas)
November 2024
Department of Preclinical Disciplines, Faculty of Medicine and Pharmacy, University of Oradea, 410081 Oradea, Romania.
is a rare group of genetic conditions where individuals experience severe growth restriction, both in the womb and after birth. From as early as the fetal stage, those affected are significantly smaller than their peers. What makes PD distinct is its slow but steady growth pattern, resulting in proportionate dwarfism, where all parts of the body are equally shortened.
View Article and Find Full Text PDFSeckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.
Int J Clin Pediatr Dent
February 2024
Department of Pedodontics and Preventive Dentistry, Maitri Dental College and Research Centre, Durg, Chhattisgarh, India.
Unlabelled: Seckel syndrome, also commonly called Seckel dwarfism, is a rare congenital disorder and always associated with severe growth retardation . This retarded growth lingers on and causes serious developmental deformities ensuing to short stature, microcephaly, mental retardation, and a beak-like nose. This case report intends to present an interesting case of a 14-year-old female patient with various clinical manifestations, typical radiographic features, and characteristic dental manifestations correlated with the literature.
View Article and Find Full Text PDFArterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.
Clin Case Rep
May 2024
Pediatric Congenital Hematologic Disorders Research Center Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences Tehran Iran.
Seckel syndrome is a rare autosomal recessive disorder, characterized by growth retardation and multiple anomalies associated with CNS vasculopathy. We describe a child with Seckel syndrome who developed a stroke due to non-moyamoya vasculopathy.
View Article and Find Full Text PDFNovel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.
Glob Med Genet
January 2024
Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin, People's Republic of China.
encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.
View Article and Find Full Text PDFMicrocephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in Gene: A Seckel Syndrome Case Report.
Children (Basel)
June 2023
Translational Genomics Laboratory, Department of Biosciences, COMSATS University, Islamabad 45550, Pakistan.
The gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization and has recently been associated with the appearance of microcephaly syndromes. -related neurological defects including microcephaly, intellectual disability, congenital dwarfism, ophthalmic manifestations, and epilepsy are mainly due to abnormal brain development pathways and loss-of-function protein mutations. We present a consanguineous Pakistani family clinically suspected of Seckel syndrome with severe microcephaly, severe intellectual disability, short stature, absence of speech, pointed nose, narrow face and bilateral cataract in two siblings residing in the suburbs of Islamabad.
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