Achard syndrome
Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet.[1] Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome.[2]
| Achard syndrome | |
|---|---|
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| Achard syndrome is inherited in an autosomal dominant manner |
Symptoms
Presentation is the following:
- Small thumbs
- Joint laxity in hands
- Joint laxity in feet
- Brachycephaly
- Short mandibular rami
References
- Castriota-Scanderbeg, Alessandro; Dallapiccola, Bruno (2006). Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses. Springer Science & Business Media. p. 262. ISBN 9783540303619.
- Herring, John A. (2013). Tachdjian's Pediatric Orthopaedics E-Book: From the Texas Scottish Rite Hospital for Children. Elsevier Health Sciences. p. e483. ISBN 9781455737406. Retrieved 7 November 2017.
Further reading
- Achard C (1902). "Arachnodactylie". Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris. 19: 834–840.
- Duncan PA (1975). "The Achard syndrome". Birth Defects Original Article Series. 11 (6): 69–73. PMID 1201353.
- PARISH JG (1960). "Skeletal syndromes associated with arachnodactyly". Proceedings of the Royal Society of Medicine. 53: 515–8. PMC 1870110. PMID 14430455.
- Parish JG (1967). "Skeletal hand charts in inherited connective tissue disease". Journal of Medical Genetics. 4 (4): 227–38. doi:10.1136/jmg.4.4.227. PMC 1468561. PMID 6082898.
External links
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