Clinical Case Reports (Feb 2024)
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl
- Lassana Cissé,
- Abdoulaye Yalcouyé,
- Kadidia Oumar Touré,
- Youlouza Coulibaly,
- Alassane Baneye Maiga,
- Salia Bamba,
- Dramane Diallo,
- Salimata Diarra,
- Abdoulaye Taméga,
- Oumou Traoré,
- Mahamadou Kotioumbé,
- Moussa Aly Sangaré,
- Hamidou Oumar Ba,
- Assiatou Simaga,
- Fatogoma Issa Koné,
- Oumar Samassekou,
- Amadou Koné,
- Cheick Oumar Guinto,
- Guida Landouré,
- the H3Africa consortium
Affiliations
- Lassana Cissé
- Service de Neurologie, Centre Hospitalier Universitaire du Point G Bamako Mali
- Abdoulaye Yalcouyé
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Kadidia Oumar Touré
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Youlouza Coulibaly
- Service d'Imagerie Médicale, Centre Hospitalier Universitaire du Point G Bamako Mali
- Alassane Baneye Maiga
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Salia Bamba
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Dramane Diallo
- University Clinical Research Center (UCRC), University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Salimata Diarra
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Abdoulaye Taméga
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Oumou Traoré
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Mahamadou Kotioumbé
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Moussa Aly Sangaré
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Hamidou Oumar Ba
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Assiatou Simaga
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Fatogoma Issa Koné
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Oumar Samassekou
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Amadou Koné
- Faculté de Médecine et d'Odontostomatologie University of Sciences, Techniques and Technology of Bamako (USTTB) Bamako Mali
- Cheick Oumar Guinto
- Service de Neurologie, Centre Hospitalier Universitaire du Point G Bamako Mali
- Guida Landouré
- Service de Neurologie, Centre Hospitalier Universitaire du Point G Bamako Mali
- the H3Africa consortium
- DOI
- https://doi.org/10.1002/ccr3.8551
- Journal volume & issue
-
Vol. 12,
no. 2
pp. n/a – n/a
Abstract
Key Clinical Message Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder with only few cases reported in Africa, mostly based on clinical and radiological findings. We report the first case in Mali, caused by a novel de novo variant in the RUNX2 gene. Abstract Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by an aplastic/hypoplastic clavicles, patent sutures and fontanels, dental abnormalities and a variety of other skeletal changes. We report a novel de novo variant in the RUNX2 gene causing a severe phenotype of CCD in a Malian girl.
Keywords
