{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T07:28:44Z","timestamp":1772782124421,"version":"3.50.1"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,3]]},"abstract":"<jats:p>An infant affected by severe arthrogryposis multiplex congenita leading to death in infancy due to neurogenic atrophy is described. Six other sibs were similarly affected. An autosomal recessive mode of inheritance is suggested.<\/jats:p>","DOI":"10.1136\/jmg.11.1.91","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"91-94","source":"Crossref","is-referenced-by-count":16,"title":["Arthrogryposis Multiplex Congenita: Neurogenic Type with Autosomal Recessive Inheritance"],"prefix":"10.1136","volume":"11","author":[{"given":"A.","family":"Rosenmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Arad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1974,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/80.3.319","article-title":"Arthrogryposis multiplex due to congenital muscular dystrophy","volume":"80","author":"Banker, B.Q.; Vitcor, M.; Adams, R.D.","year":"1957","unstructured":"Banker, B. Q., Vitcor, M., and Adams, R. D. (1957). Arthrogryposis multiplex due to congenital muscular dystrophy. Brain, 80, 319-334.","journal-title":"Brain"},{"key":"ref_2","first-page":"479","article-title":"etude anatomique d'un cas d'arthrogrypose multiple congenitale et familiale","volume":"104","author":"Bargeton, E.; Nezelof, C.; Guran, P.; Job, J.C.","year":"1961","unstructured":"Bargeton, E., Nezelof, C., Guran, P., and Job, J. C. (1961). etude anatomique d'un cas d'arthrogrypose multiple congenitale et familiale. Revue Neurologique, 104, 479-489.","journal-title":"Revue Neurologique"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1001\/archneur.1961.00450130079010","article-title":"Arthrogryposis multiplex congenita: case due to disease of the anterior horn cells","volume":"5","author":"Drachman, D.B.; Banker, B.Q.","year":"1961","unstructured":"Drachman, D. B. and Banker, B. Q. (1961). Arthrogryposis multiplex congenita: case due to disease of the anterior horn cells. Archives of Neurology, 5, 77-93.","journal-title":"Archives of Neurology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1111\/j.1651-2227.1958.tb07887.x","article-title":"Cerebral lesions in arthrogryposis multiplex congenita","volume":"47","author":"Ek, J.I.","year":"1958","unstructured":"Ek, J. I. (1958). Cerebral lesions in arthrogryposis multiplex congenita. Acta Paediatrica, 47, 302-316.","journal-title":"Acta Paediatrica"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"89","DOI":"10.2106\/00004623-196850010-00006","article-title":"Arthrogryposis multiplex congenita. A review of forty-five cases","volume":"50","author":"Friedlander, H.L.; Westin, G.W.; Wood, W.L.","year":"1968","unstructured":"Friedlander, H. L., Westin, G. W., and Wood, W. L. (1968). Arthrogryposis multiplex congenita. A review of forty-five cases. Journal of Bone and3Joint Surgery, 50A, 89-112.","journal-title":"Journal of Bone and3Joint Surgery"},{"key":"ref_6","first-page":"259","article-title":"Familiare arthogryposis multiplex congenita. Neuro-arthro-myodysplhasia congenita","volume":"15","author":"Frischknecht, V.W.; Bianchi, L.; Pilleri, G.","year":"1960","unstructured":"Frischknecht, V. W., Bianchi, L., and Pilleri, G. (1960). Familiare arthogryposis multiplex congenita. Neuro-arthro-myodysplhasia congenita. Helvetica Paediatrica Acta, 15, 259-279.","journal-title":"Helvetica Paediatrica Acta"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1001\/archneur.1971.00480360095013","article-title":"Arthrogryposis multiplex congenita: simultaneous involvement of peripheral nerve and skeletal muscle","volume":"24","author":"Hooshmand, H.; Martinez, A.J.; Rosenblum, W.I.","year":"1971","unstructured":"Hooshmand, H., Martinez, A. J., and Rosenblum, W. I. (1971). Arthrogryposis multiplex congenita: simultaneous involvement of peripheral nerve and skeletal muscle. Archives of Neurology, 24, 561-572.","journal-title":"Archives of Neurology"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1542\/peds.17.4.532","article-title":"Arthrogryposis: A clinical and pathological study of three cases","volume":"17","author":"Kanof, A.; Aronson, S.M.; Volk, B.W.","year":"1956","unstructured":"Kanof, A., Aronson, S. M., and Volk, B. W. (1956). Arthrogryposis: A clinical and pathological study of three cases. Pediatrics, 17, 532-540.","journal-title":"Pediatrics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1542\/peds.46.6.891","article-title":"Arthrogryposis multiplex congenita: twenty three cases in an Arab kindred","volume":"46","author":"Lebenthal, E.; Shochet, S.B.; Adam, A.; Seelenfreund, M.; Fried, A.; Najenson, T.; Sandbank, U.; Matoth, Y.","year":"1970","unstructured":"Lebenthal, E., Shochet, S. B., Adam, A., Seelenfreund, M., Fried, A., Najenson, T., Sandbank, U., and Matoth, Y. (1970). Arthrogryposis multiplex congenita: twenty three cases in an Arab kindred. Pediatrics, 46, 891-899.","journal-title":"Pediatrics"},{"key":"ref_10","first-page":"86","article-title":"Hereditary nonprogressive muscular dystrophy inducing arthrogryposis syndroms","author":"Pearson, C.M.; Fowler, Jr, W.G.","year":"1963","unstructured":"Pearson, C. M. and Fowler, W. G., Jr. (1963). Hereditary nonprogressive muscular dystrophy inducing arthrogryposis syndroms. Brain, 86,75-88.","journal-title":"Brain"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1212\/WNL.18.9.926","article-title":"Arthrogryposis multiplex congenita: report of two cases of a radicular type with familial incidence","volume":"18","author":"Peiia, C.E.; Miller, F.; Budzilovich, G.N.; Feigin, I.","year":"1968","unstructured":"Peiia, C. E., Miller, F., Budzilovich, G. N., and Feigin, I. (1968). Arthrogryposis multiplex congenita: report of two cases of a radicular type with familial incidence. Neurology, 18, 926-930.","journal-title":"Neurology"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1177\/000992286800701112","article-title":"Arthrogryposis multiplex congenita: case report of two siblings","volume":"7","author":"Srivastava, R.N.","year":"1968","unstructured":"Srivastava, R. N. (1968). Arthrogryposis multiplex congenita: case report of two siblings. Clinical Pediatrics, 7, 691-694.","journal-title":"Clinical Pediatrics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/S0031-3955(16)30981-6","article-title":"Progressive muscular dystrophy and atrophy and related conditions. Diagnosis and management","volume":"7","author":"Swinyard, C.A.","year":"1960","unstructured":"Swinyard, C. A. (1960). Progressive muscular dystrophy and atrophy and related conditions. Diagnosis and management. Pediatric Clinics of North America, 7, 703-732.","journal-title":"Pediatric Clinics of North America"},{"key":"ref_14","article-title":"was seen in 1969 at University Hospital at age 22. She had had an onset of inconstant low back pain 2 years previously which had recurred. Radiological examination showed a bilateral defect in the pars interarticularis of L-5 with grade II spondylolisthesis at L5-S1. In addition spina bifida occulta of L-5 was demonstrated. She was treated by L-5 laminectomy and L5-S1 discectomy","author":"T, K.","year":"(III.1)","unstructured":"K.T. (III.1) was seen in 1969 at University Hospital at age 22. She had had an onset of inconstant low back pain 2 years previously which had recurred. Radiological examination showed a bilateral defect in the pars interarticularis of L-5 with grade II spondylolisthesis at L5-S1. In addition spina bifida occulta of L-5 was demonstrated. She was treated by L-5 laminectomy and L5-S1 discectomy."},{"key":"ref_15","article-title":"was seen at University Hospital in 1968 at age 20 with a history of low back pain for many years. Upon x-ray examination the patient was found to have spondylolysis with anterior displacement of L-5 under L-4 (reverse spondylolisthesis), bilateral defects of the pars interarticularis, and slight spina bifida occulta of L-5. Treatment consisted of L-5 hemilaminectomy (rt) and L5-S1 and L4-5 discectomy","author":"S, R.L.","year":"(1.2)","unstructured":"R.L.S. (1.2) was seen at University Hospital in 1968 at age 20 with a history of low back pain for many years. Upon x-ray examination the patient was found to have spondylolysis with anterior displacement of L-5 under L-4 (reverse spondylolisthesis), bilateral defects of the pars interarticularis, and slight spina bifida occulta of L-5. Treatment consisted of L-5 hemilaminectomy (rt) and L5-S1 and L4-5 discectomy."},{"key":"ref_16","article-title":"1968, at age 19 years, with a history of recurrent low back pain during the preceding 5 to 6 years. A myelogram revealed multiple anomalies of the L5-S1 area including bilateral defects in the pars interarticularis of L-5, grade I spondylolisthesis of L5-S1, and spina bifida occulta of S-1. The patient was treated by L-5 laminectomy with L5-S1 discectomy","author":"S, J.L.","unstructured":"J.L.S. (HII.3) was seen at University Hospital, also in 1968, at age 19 years, with a history of recurrent low back pain during the preceding 5 to 6 years. A myelogram revealed multiple anomalies of the L5-S1 area including bilateral defects in the pars interarticularis of L-5, grade I spondylolisthesis of L5-S1, and spina bifida occulta of S-1. The patient was treated by L-5 laminectomy with L5-S1 discectomy."},{"key":"ref_17","article-title":"was seen in 1968 at University Hospital at age 17. He had a history of intermittent low back pain with onset at age 14. Radiology showed sacral erosion of the anterior portion of the spinal canal approximately 3 cm in size. Spina bifida occulta of L-5 was present while spondylolisthesis was not. A myelogram showed blunting of L-5 and S-1 nerve roots on the left. No treatment was carried out","author":"S, D.","year":"(111.4)","unstructured":"D.S. (111.4) was seen in 1968 at University Hospital at age 17. He had a history of intermittent low back pain with onset at age 14. Radiology showed sacral erosion of the anterior portion of the spinal canal approximately 3 cm in size. Spina bifida occulta of L-5 was present while spondylolisthesis was not. A myelogram showed blunting of L-5 and S-1 nerve roots on the left. No treatment was carried out."},{"key":"ref_18","article-title":"Case Reports The Proposita (IV.1) was admitted to The Children's Orthopedic Hospital and Medical Center in 1972, at the Received 30","volume-title":"This work was supported in part by NIH grant GM 15253","year":"1973","unstructured":"Case Reports The Proposita (IV.1) was admitted to The Children's Orthopedic Hospital and Medical Center in 1972, at the Received 30 July 1973. * This work was supported in part by NIH grant GM 15253."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.11.1.91","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:06:21Z","timestamp":1760720781000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.11.1.91"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1974,3]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1974,3,1]]},"published-print":{"date-parts":[[1974,3]]}},"alternative-id":["10.1136\/jmg.11.1.91"],"URL":"https:\/\/doi.org\/10.1136\/jmg.11.1.91","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1974,3]]}}}