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Arthrogryposis multiplex congenita


Arthrogryposis Multiplex Congenita

General: Heterogeneous group of disorders of multiple proposed etiologies; often one manifestation of a complex of congenital anomalies; probable autosomal recessive 959c26j transmission; found in Eskimos; affects more males than females; characterized by decreased fetal joint mobility secondary to neuropathic disease, myopathic disease, or some other cause.

Ocular: Congenital bilateral cataract; associated with ophthalmoplegia, retinopathy, goniodysgenesis, and infantile glaucoma, as well as Duane retraction syndrome.

Clinical: Multiple articular rigidities; hypoplasia of adjacent muscle groups; soft tissue shortening; ducklike waddle; muscle atrophy.

Beckerman RC, Buchino JJ. Arthrogryposis multiplex congenita as part of an inherited symptom complex: two case reports and a review of the literature. Pediatrics 1978; 61:417-422.



Brooks JG Jr, Coster DJ. Arthrogryposis multiplex congenita: a report of two cases. Aust N Z J Ophthalmol 1994; 22: 127-l32.

Drachman DB. The syndrome of arthrogryposis multiplex congenita. Birth Defects 1971; 7:90-97.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Miller BA, Pollard ZF Duane's retraction syndrome and arthrogryposis multiplex congenita. Surv Ophthalmol 1994; 38:395-396.

Schrander-Stumpel CT, et al. Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. J Med Genet 1993; 30:78-80.





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