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Genetics Corner: A Consultation for Joint Limitations that Developed After Birth.
- Source :
-
Neonatology Today . Jul2024, Vol. 19 Issue 7, p178-182. 5p. - Publication Year :
- 2024
-
Abstract
- The article presents the case study of a 13-week-old female who was evaluated by the Pediatric Genetics service for progressive joint limitations that developed after birth. Topics include the initial symptoms and diagnostic tests performed, the subsequent evaluations and findings at the muscular dystrophy clinic, and the identification of physical symptoms like joint contractures, hyperpigmentation, and a "frog-leg" posture.
- Subjects :
- *GENETIC disorder diagnosis
*SKIN disease diagnosis
*BIOPSY
*DIARRHEA
*PROTEIN-losing enteropathy
*ENDOSCOPIC surgery
*MUSCLE weakness
*MUSCLE hypotonia
*JOINT diseases
*GENETIC mutation
*RANGE of motion of joints
*GENETIC testing
*ENDOSCOPY
*COLONOSCOPY
*NERVE conduction studies
*SEQUENCE analysis
*MEDICAL referrals
Subjects
Details
- Language :
- English
- ISSN :
- 19327129
- Volume :
- 19
- Issue :
- 7
- Database :
- Academic Search Index
- Journal :
- Neonatology Today
- Publication Type :
- Academic Journal
- Accession number :
- 178864842