Combined achondroplasia and short stature homeobox (SHOX) gene deletion in a Danish infant
We present the clinical findings in an infant girl with concurrent achondroplasia and SHOX deficiency. We conclude that the clinical findings in infancy are phenotypically compatible with achondroplasia, with no features of the SHOX deficiency evident. This may change over time, as some features of SHOX-deficiency only become evident later in life.PMID:38070826 | DOI:10.1016/j.ejmg.2023.104894 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Kasper V Seiersen Tine B Henriksen Ted C K Andelius Lotte Andreasen Tue Diemer Gudrun Gudmundsdottir Ida Vogel Vibike Gj ørup Pernille A Gregersen Source Type: research

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
CONCLUSION: Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.PMID:38070824 | DOI:10.1016/j.ejmg.2023.104895 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Yuri Sonoda Atsushi Fujita Michiko Torio Takahiko Mukaino Ayumi Sakata Masaru Matsukura Kousuke Yonemoto Ken Hatae Yuko Ichimiya Pin Fee Chong Masayuki Ochiai Yoshinao Wada Machiko Kadoya Nobuhiko Okamoto Yoshiko Murakami Tadashi Suzuki Noriko Isobe Hiros Source Type: research

GRM7-related disorder: Five additional patients from three independent families and review of the literature
We report here 5 patients from 3 independent families with biallelic variants in the GRM7 gene. We review the literature and provide further elements for the understanding of the genotype-phenotype correlation of this rare syndrome.PMID:38070825 | DOI:10.1016/j.ejmg.2023.104893 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Louis Januel Nicolas Chatron Clotilde Rivier Ringenbach Sara Cabet Audrey Labalme Yavuz Sahin Hossein Darvish Michael Kruer Somayeh Bakhtiari Damien Sanlaville Jean Madeleine de Sainte Agathe Gaetan Lesca Source Type: research

Combined achondroplasia and short stature homeobox (SHOX) gene deletion in a Danish infant
We present the clinical findings in an infant girl with concurrent achondroplasia and SHOX deficiency. We conclude that the clinical findings in infancy are phenotypically compatible with achondroplasia, with no features of the SHOX deficiency evident. This may change over time, as some features of SHOX-deficiency only become evident later in life.PMID:38070826 | DOI:10.1016/j.ejmg.2023.104894 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Kasper V Seiersen Tine B Henriksen Ted C K Andelius Lotte Andreasen Tue Diemer Gudrun Gudmundsdottir Ida Vogel Vibike Gj ørup Pernille A Gregersen Source Type: research

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature
CONCLUSION: Our data provides evidence that a group of patients with CDDG1 manifest slowly progressive myoclonic epilepsy and cognitive decline during the long-term clinical course.PMID:38070824 | DOI:10.1016/j.ejmg.2023.104895 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Yuri Sonoda Atsushi Fujita Michiko Torio Takahiko Mukaino Ayumi Sakata Masaru Matsukura Kousuke Yonemoto Ken Hatae Yuko Ichimiya Pin Fee Chong Masayuki Ochiai Yoshinao Wada Machiko Kadoya Nobuhiko Okamoto Yoshiko Murakami Tadashi Suzuki Noriko Isobe Hiros Source Type: research

GRM7-related disorder: Five additional patients from three independent families and review of the literature
We report here 5 patients from 3 independent families with biallelic variants in the GRM7 gene. We review the literature and provide further elements for the understanding of the genotype-phenotype correlation of this rare syndrome.PMID:38070825 | DOI:10.1016/j.ejmg.2023.104893 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Louis Januel Nicolas Chatron Clotilde Rivier Ringenbach Sara Cabet Audrey Labalme Yavuz Sahin Hossein Darvish Michael Kruer Somayeh Bakhtiari Damien Sanlaville Jean Madeleine de Sainte Agathe Gaetan Lesca Source Type: research

Combined achondroplasia and short stature homeobox (SHOX) gene deletion in a Danish infant
We present the clinical findings in an infant girl with concurrent achondroplasia and SHOX deficiency. We conclude that the clinical findings in infancy are phenotypically compatible with achondroplasia, with no features of the SHOX deficiency evident. This may change over time, as some features of SHOX-deficiency only become evident later in life.PMID:38070826 | DOI:10.1016/j.ejmg.2023.104894 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Kasper V Seiersen Tine B Henriksen Ted C K Andelius Lotte Andreasen Tue Diemer Gudrun Gudmundsdottir Ida Vogel Vibike Gj ørup Pernille A Gregersen Source Type: research

Secondary physical features in children with FASD
CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.PMID:38042254 | DOI:10.1016/j.ejmg.2023.104890 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Miguel Del Campo Julie A Kable Claire D Coles Michael Suttie Christina D Chambers Gretchen Bandoli Source Type: research

Secondary physical features in children with FASD
CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.PMID:38042254 | DOI:10.1016/j.ejmg.2023.104890 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Miguel Del Campo Julie A Kable Claire D Coles Michael Suttie Christina D Chambers Gretchen Bandoli Source Type: research

Secondary physical features in children with FASD
CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.PMID:38042254 | DOI:10.1016/j.ejmg.2023.104890 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Miguel Del Campo Julie A Kable Claire D Coles Michael Suttie Christina D Chambers Gretchen Bandoli Source Type: research

Secondary physical features in children with FASD
CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.PMID:38042254 | DOI:10.1016/j.ejmg.2023.104890 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Miguel Del Campo Julie A Kable Claire D Coles Michael Suttie Christina D Chambers Gretchen Bandoli Source Type: research

Secondary physical features in children with FASD
CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.PMID:38042254 | DOI:10.1016/j.ejmg.2023.104890 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Miguel Del Campo Julie A Kable Claire D Coles Michael Suttie Christina D Chambers Gretchen Bandoli Source Type: research

Secondary physical features in children with FASD
CONCLUSION: Secondary physical features were not more frequent in children with ARND compared to children without an FASD diagnosis but were a marker for lower cognitive function. The use of secondary physical features to support a diagnosis of ARND was not supported in this sample.PMID:38042254 | DOI:10.1016/j.ejmg.2023.104890 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - December 2, 2023 Category: Genetics & Stem Cells Authors: Miguel Del Campo Julie A Kable Claire D Coles Michael Suttie Christina D Chambers Gretchen Bandoli Source Type: research

Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients. A dialogic approach
Eur J Med Genet. 2023 Nov 29:104891. doi: 10.1016/j.ejmg.2023.104891. Online ahead of print.ABSTRACTThe Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included Open Dialogue Approach, and a feedback survey to identify the main priorities in the transitioning process from paediatric to adult healthcare for patients with Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome. The common needs identified by patients, families, caregivers, and healthcare ...
Source: European Journal of Medical Genetics - December 1, 2023 Category: Genetics & Stem Cells Authors: D Scognamiglio M Boarini M C la Forgia E Grippa S Forni A Sergi A Romeo G Massa L Sangiorgi Source Type: research

Defining priorities in the transition from paediatric to adult healthcare for rare bone disease patients. A dialogic approach
Eur J Med Genet. 2023 Nov 29:104891. doi: 10.1016/j.ejmg.2023.104891. Online ahead of print.ABSTRACTThe Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included Open Dialogue Approach, and a feedback survey to identify the main priorities in the transitioning process from paediatric to adult healthcare for patients with Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome. The common needs identified by patients, families, caregivers, and healthcare ...
Source: European Journal of Medical Genetics - December 1, 2023 Category: Genetics & Stem Cells Authors: D Scognamiglio M Boarini M C la Forgia E Grippa S Forni A Sergi A Romeo G Massa L Sangiorgi Source Type: research