Publications by authors named "L Ben Jemaa"
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.
Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).
J Pediatr Endocrinol Metab
June 2023
Objectives: Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls.
Methods: Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments.
Background: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the gene are the causative genetic anomaly for the syndrome, with, however, no evident genotype-phenotype correlation.
View Article and Find Full Text PDFNon-Immune Hydrops Fetalis (NIHF) is an intrauterine condition characterized by excessive fluid accumulation in at least two fetal compartments in the absence of maternal circulating red cell antibodies. It is associated with a poor prognosis and a wide etiological spectrum. Among the metabolic causes, Mucopolysaccharidosis type VII depicts the most frequent type of lysosomal storage disorders in the cause of NIHF.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates a group of patients with axial and extra-axial deceleration, characterized by joint pain, antalgic gait, and spine biomechanical loss, which initially led to misdiagnoses of myopathy and juvenile rheumatoid arthritis.
- - The research involved seven patients of varying ages and included clinical evaluations, imaging studies, and genetic testing that revealed a diagnosis of progressive pseudorheumatoid chondrodysplasia, showing specific skeletal abnormalities and mutations in the WISP3 gene.
- - The findings emphasize the importance of thorough clinical examination and skeletal surveys over myopathic and rheumatologic tests to accurately distinguish between different diagnoses, especially in the context of joint-related conditions.