Patologi de grouchy syndrome - Diskusi Dokter

general_alomedika

ALO dokter. Mohon informasi mengenai patologi dari de Grouchy syndrome, Apakah terjadi delesi di kromosom 18 p atau kromosom 18 q, karena informasi yang saya...

Diskusi Dokter

07 April 2019, 13:11
dr.A Rafli, SpA
dr.A Rafli, SpA
Dokter Spesialis Anak
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities. Such presentation warrants prompt diagnosis for effective management. Furthermore, genetic counseling for such patients and their families should be considered as a part of treatment itself.
07 April 2019, 13:12
dr.A Rafli, SpA
dr.A Rafli, SpA
Dokter Spesialis Anak
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754987/

Ini masuk rare disease ya dan boleh dicari si program POSUM ya🙏
07 April 2019, 15:58
Thanks, doc. :)