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- Title
Genetics Corner: A Consultation for Joint Limitations that Developed After Birth.
- Authors
Ramanathan, Subhadra; Wang, Hua; Clark, Robin D.
- 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
- Publication
Neonatology Today, 2024, Vol 19, Issue 7, p178
- ISSN
1932-7129
- Publication type
Case Study