Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25411939.
- Also identified by DOI 10.1097/BPB.0000000000000119.
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Abstract
Escobar syndrome is a nonlethal subtype of multiple pterygium syndromes, characterized by webbing across the joints, congenital joint contracture, facial dysmorphism and a variety of other congenital anomalies. We report orthopaedic manifestation and the treatment outcome of two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene.
Medical subject headings
- Abnormalities, Multiple
- Homozygote
- Malignant Hyperthermia
- Mutation
- Receptors, Nicotinic
- Siblings
- Skin Abnormalities