cover
Article Per Year (5 Year)
All
Home Page
OAI Link
Editorial Team
Contact
Reviewer
Google Scholar
Contact Name
Risti Graharti
Contact Email
risti.graharti@gmail.com
Phone
+6281369730011
Journal Mail Official
medulla.fkunila@gmail.com
Editorial Address
-
Location
Kota bandar lampung,
Lampung
INDONESIA
Medula
Published by Universitas Lampung
ISSN : -     EISSN : 97726154     DOI : -
Core Subject : Health, Science, Education,
Education Medicine & Pharmacology Neuroscience Public Health
Medical Profession Journal of Lampung didirkan pada tahun 2013. Medula hadir memenuhi kebutuhan publikasi jurnal bagi mahasiswa Fakultas Kedokteran, Dosen ataupun klinisi dan profesi lain dibidang kedokteran. Medula diterbitkan dengan frekuensi 4 kali dalam setahun yang tiap nomornya mencakup 30 jenis artikel ilmiah seperti artikel penelitian, laporan kasus, tinjauan pustaka dan lain-lain. Medula sudah memiliki nomor ISSN media cetak sejak tahun 2013
Arjuna Subject : Kedokteran - Kedokteran (Lain-Lain)
Articles 1,081 Documents
 105   106   107   108   109 
Noonan Syndrome pada Bayi Perempuan 6 Bulan: Sebuah Laporan Kasus Chindy Setia Putri; Ismi Citra Ismail; Epriyan Saputra
Medula Vol 17 No 2 (2026): Medula
Publisher : CV. Jasa Sukses Abadi

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.53089/medula.v17i2.2035

Abstract

Noonan syndrome (NS) is an autosomal dominant genetic disorder with significant phenotypic overlap with Turner syndrome (TS). Given these overlapping physical stigmata, accurate diagnosis requires a comprehensive multisystem clinical evaluation and molecular genetic confirmation, particularly when cytogenetic karyotyping yields normal results. A 6-month-old female infant was referred with an initial suspicion of TS, suspected hydrocephalus, and significant gross motor developmental delay. Physical examination revealed characteristic craniofacial and skeletal phenotypic stigmata mimicking TS, including webbed neck, bilateral microtia, low-set ears, hypertelorism, wide-spaced nipples, and bilateral single palmar creases. Echocardiography showed congenital heart disease consisting of mild pulmonary stenosis and a small atrial septal defect. Brain non-contrast CT scan demonstrated Benign Enlargement of the Subarachnoid Space in Infancy (BESS) with mild ventriculomegaly, ruling out obstructive hydrocephalus. Cytogenetic karyotype analysis revealed a normal 46,XX female karyotype, thereby definitively excluding classic TS (45,X). The combination of physical stigmata overlapping with TS, a normal 46,XX karyotype, and the presence of pulmonary stenosis leads to a strong clinical suspicion of Noonan syndrome (strongly suspected Noonan syndrome). However, because molecular genetic testing has not been performed, the diagnosis of NS in this patient remains a clinical diagnosis. This case highlights the importance of a holistic diagnostic approach to differentiate TS and NS phenotypes. Further molecular genetic testing, such as a Targeted Next-Generation Sequencing (NGS) panel for RASopathy genes (PTPN11, SOS1, KRAS, RAF1) or Whole Exome Sequencing (WES), is highly recommended to identify the specific causative gene mutation and achieve a definitive molecular diagnosis.

Page 109 of 109 | Total Record : 1081

 105   106   107   108   109 

Filter by Year

2019 2026


Reset
Filter By Issues
All Issue Vol 17 No 2 (2026): Medula Vol 17 No 1 (2026): Medula Vol 16 No 4 (2026): Medula Vol 16 No 3 (2026): Medula Vol 16 No 2 (2026): Medula Vol 16 No 1 (2026): Medula Vol 14 No 10 (2025): Medula Vol 15 No 4 (2025): Medula Vol 15 No 3 (2025): Medula Vol 15 No 2 (2025): Medula Vol 15 No 1 (2025): Medula Vol 14 No 12 (2024): Medula Vol 14 No 11 (2024): Medula Vol 14 No 9 (2024): Medula Vol 14 No 8 (2024): Medula Vol 14 No 7 (2024): Medula Vol 14 No 6 (2024): Medula Vol 14 No 5 (2024): Medula Vol 14 No 4 (2024): Medula Vol 14 No 3 (2024): Medula Vol 14 No 2 (2024): Medula Vol 14 No 1 (2024): Medula Vol 13 No 4.1 (2023): Medula - Edisi Spesial (Special Sense) Vol 13 No 7 (2023): Medula Vol 13 No 6 (2023): Medula Vol 13 No 5 (2023): Medula Vol 13 No 4 (2023): Medula Vol 13 No 3 (2023): Medula Vol 13 No 2 (2023): Medula Vol 13 No 1 (2023): Medula Vol 12 No 4 (2022): Medula Vol 12 No 3 (2022): Medula Vol 12 No 2 (2022): Medula Vol 12 No 1 (2022): Medula Vol 11 No 4 (2021): Medula Vol 11 No 3 (2021): Medula Vol 11 No 2 (2021): Medula Vol 11 No 1 (2021): Medula Vol 10 No 4 (2021): Medula Vol 10 No 3 (2020): Medula Vol 10 No 2 (2020): Medula Vol 10 No 1 (2020): Medula Vol 9 No 4 (2020): Medula Vol 9 No 3 (2019): Medula Vol 9 No 2 (2019): Medula More Issue