European Journal of Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

How pain affect real life of children and adults with achondroplasia: A systematic review
Eur J Med Genet. 2023 Sep 26;66(11):104850. doi: 10.1016/j.ejmg.2023.104850. Online ahead of print.ABSTRACTThe clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Roberta Onesimo Elisabetta Sforza Maria Francesca Bedeschi Chiara Leoni Valentina Giorgio Donato Rigante Cristina De Rose Eliza Maria Kuczynska Domenico Marco Romeo Osvaldo Palmacci Luca Massimi Matteo Porro Michaela Veronika Gonfiantini Angelo Selicorni Source Type: research

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
Eur J Med Genet. 2023 Sep 25;66(11):104852. doi: 10.1016/j.ejmg.2023.104852. Online ahead of print.ABSTRACTDefects in L-serine biosynthesis are a group of autosomal recessive diseases resulting in a wide phenotypic spectrum ranging from viable to lethal presentations and caused by variants in the three genes encoding the L-serine biosynthesis enzymes, PHGDH, PSAT1, and PSPH. Neu-Laxova syndrome (NLS) is the fetal form of this group, characterized by multiple congenital anomalies including severe intrauterine growth retardation, cutaneous lesions extending from ichthyosis to severe restrictive dermopathy with ectropion and ...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvestre Cuinat Chlo é Quélin Laurent Pasquier Philippe Loget Dominique Aussel Sylvie Odent Annie Laquerri ère Maia Proisy Sylvie Mazoyer Marion Delous Patrick Edery Nicolas Chatron Gaetan Lesca Audrey Putoux Source Type: research

MAST1-related mega-corpus-callosum syndrome with central hypogonadism
CONCLUSION: This is the first patient with MAST1 gene mutation described with central hypogonadism, which may be associated with the phenotype of MCCCHCM syndrome.PMID:37758169 | DOI:10.1016/j.ejmg.2023.104853 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Natacha Sloboda Emeline Renard Laetitia Lambert C éline Bonnet Bruno Leheup Calina Todosi Emmanuelle Schmitt Fran çois Feillet Eva Feigerlova Am élie Piton Pierre Journeau Marc Klein Louis Maillard Jamel Chelly Mathilde Renaud Source Type: research

Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25;66(11):104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in wh...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
In conclusion, a high (55.2%) diagnosis rate was achieved through the utilization of CMA, epigenetic and WES analyzes; 15 rare syndromes were defined, who were born with SGA and had atypical and/or mild dysmorphic findings. This study not only drew attention to the association of some rare syndromes with SGA, but also introduced novel genes and CNVs as potential contributors to syndromic SGA.PMID:37758162 | DOI:10.1016/j.ejmg.2023.104854 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Beyhan T üysüz B üşra Kasap Dilek Uluda ğ Alkaya Zeynep Alp Ünkar P ınar Köseoğlu Filiz Geyik Emre Özer Hasan Önal Alper Gezdirici Oya Ercan Source Type: research

Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
We report a family, father and three children, affected with growth retardation, low bone mass and recurrent fractures. None of them had rickets, blue sclera or dentinogenesis imperfecta. ALP serum levels were low and genetics revealed in the four probands heterozygous pathogenic mutations in COL1A2 c.838G > A (p.Gly280Ser) and in ALPL c.1333T > C (p.Ser445Pro). After multidisciplinary meeting, a diagnostic transiliac bone biopsy was indicated for each sibling for therapeutic decision. Bone histology and histomorphometry, as compared to reference values of children with OI type I as well as, to a control pediatric pa...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Nadja Fratzl-Zelman Agn ès Linglart Kim Bin Frank Rauch St éphane Blouin R égis Coutant Aur élie Donzeau Source Type: research

Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
This article enhances the genetic, clinical, therapeutic, and radiological understanding of SPARC-related OI.PMID:37758164 | DOI:10.1016/j.ejmg.2023.104857 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Silvia Storoni Luca Celli Lidiia Zhytnik Katre Maasalu Aare M ärtson Sulev K õks Sergey Khmyzov Andrei Pashenko Alessandra Maugeri Anna Zambrano Mauro Celli Elisabeth M W Eekhoff Dimitra Micha Source Type: research

Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome.PMID:37758165 | DOI:10.1016/j.ejmg.2023.104855 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Jessica Rosenblum Lennart Van der Veeken Michael Aertsen Marije Meuwissen Anna C Jansen Source Type: research

Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions
CONCLUSIONS: The CGAT has the potential to enable general physicians to promptly identify pediatric patients with an increased probability of having a genetic condition.PMID:37758166 | DOI:10.1016/j.ejmg.2023.104858 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: David Ferri-Rufete Aitor L ópez-González D ídac Casas-Alba Daniel Cuadras Francesc Palau Antonio Mart ínez-Monseny Source Type: research

Life span care for patients with skeletal dysplasia: A roadmap
Eur J Med Genet. 2023 Sep 25:104851. doi: 10.1016/j.ejmg.2023.104851. Online ahead of print.ABSTRACTPatients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which pat...
Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Wouter H Nijhuis Marjolein Verhoef Ralph J B Sakkers Source Type: research