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Lumbar kyphoscoliosis

MedGen UID:
371940
Concept ID:
C1834953
Finding
HPO: HP:0004619

Term Hierarchy

Conditions with this feature

Kniest dysplasia
MedGen UID:
75559
Concept ID:
C0265279
Disease or Syndrome
Kniest dysplasia is characterized by skeletal and craniofacial anomalies. Skeletal anomalies include disproportionate dwarfism, a short trunk and small pelvis, kyphoscoliosis, short limbs, and prominent joints and premature osteoarthritis that restrict movement. Craniofacial manifestations include midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. The phenotype is severe in some patients and mild in others. There are distinct radiographic changes including coronal clefts of vertebrae and dumbbell-shaped femora. The chondrooseous morphology is pathognomonic with perilacunar 'foaminess' and sparse, aggregated collagen fibrils resulting in an interterritorial matrix with a 'Swiss-cheese' appearance (summary by Wilkin et al., 1999).
Spinocerebellar ataxia, autosomal recessive 31
MedGen UID:
1786855
Concept ID:
C5543627
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-31 (SCAR31) is a complex neurodevelopmental disorder characterized by global developmental delay with hypotonia and variably impaired intellectual and language development. Affected individuals have an ataxic gait, tremor, and dysarthria; more severely affected patients also have spasticity with inability to walk. Most have optic atrophy. Brain imaging shows cerebellar hypoplasia, enlarged ventricles, and atrophy of the posterior corpus callosum. Additional features may include retinitis pigmentosa, sensorineural deafness, dysmorphic facial features, and possibly endocrine dysfunction (summary by Collier et al., 2021).

Professional guidelines

PubMed

Terao T, Kato N, Sasaki Y, Ohara K, Michishita S, Nakayama Y, Hadano K, Karagiozov K, Tani S, Murayama Y
Neurol Sci 2022 Jan;43(1):593-601. Epub 2021 May 10 doi: 10.1007/s10072-021-05298-9. PMID: 33973077
Bhardwaj A, Nagandla K
Postgrad Med J 2014 Aug;90(1066):450-60. Epub 2014 Jun 5 doi: 10.1136/postgradmedj-2013-132377. PMID: 24904047
Sinha AK, Seki JT, Moreau G, Ventureyra E, Letts RM
Can J Surg 1997 Jun;40(3):218-26. PMID: 9194784Free PMC Article

Recent clinical studies

Etiology

Takami M, Tsutsui S, Nagata K, Taiji R, Iwasaki H, Okada M, Minamide A, Yukawa Y, Hashizume H, Yamada H
J Neurosurg Spine 2024 Jan 1;40(1):70-76. Epub 2023 Oct 13 doi: 10.3171/2023.8.SPINE23520. PMID: 37856375
Takami M, Taiji R, Tsutsui S, Iwasaki H, Okada M, Minamide A, Yukawa Y, Hashizume H, Yamada H
J Neurosurg Spine 2022 Jan 1;36(1):62-70. Epub 2021 Sep 3 doi: 10.3171/2021.3.SPINE201856. PMID: 34479187
Wang H, Li W
Int Orthop 2020 Jul;44(7):1375-1383. Epub 2020 May 21 doi: 10.1007/s00264-020-04632-8. PMID: 32440815
Sato T, Yonezawa I, Inoue H, Tada K, Kobayashi S, Hayashi E, Tamura N, Kaneko K; Juntendo AS Research Group
BMC Musculoskelet Disord 2020 Jan 18;21(1):41. doi: 10.1186/s12891-020-3040-z. PMID: 31954409Free PMC Article
Matsumura A, Namikawa T, Kato M, Ozaki T, Hori Y, Hidaka N, Nakamura H
J Neurosurg Spine 2017 Feb;26(2):150-157. Epub 2016 Oct 7 doi: 10.3171/2016.7.SPINE16172. PMID: 27716016

Diagnosis

Takami M, Tsutsui S, Nagata K, Taiji R, Iwasaki H, Okada M, Minamide A, Yukawa Y, Hashizume H, Yamada H
J Neurosurg Spine 2024 Jan 1;40(1):70-76. Epub 2023 Oct 13 doi: 10.3171/2023.8.SPINE23520. PMID: 37856375
Suratwala SJ, Cronin M, Kondra K, Leone V
Spine Deform 2016 Sep;4(5):385-389. Epub 2016 Aug 21 doi: 10.1016/j.jspd.2016.04.001. PMID: 27927497
Loder D, Lalous M, Rochon L, Albrecht S, Carpineta L, Lefebvre J, Fitzpatrick J, Miner L, Tischkowitz M
Fetal Diagn Ther 2009;25(1):11-4. Epub 2008 Dec 18 doi: 10.1159/000185606. PMID: 19092254
Miyakoshi N, Shimada Y, Suzuki T, Hongo M, Kasukawa Y, Okada K, Kodama H, Itoi E
J Orthop Sci 2003;8(5):733-6. doi: 10.1007/s00776-003-0698-7. PMID: 14557944
Carvalho NF, Kenney RD, Carrington PH, Hall DE
Pediatrics 2001 Apr;107(4):E46. doi: 10.1542/peds.107.4.e46. PMID: 11335767

Therapy

Takami M, Tsutsui S, Nagata K, Taiji R, Iwasaki H, Okada M, Minamide A, Yukawa Y, Hashizume H, Yamada H
J Neurosurg Spine 2024 Jan 1;40(1):70-76. Epub 2023 Oct 13 doi: 10.3171/2023.8.SPINE23520. PMID: 37856375
Takami M, Tsutsui S, Yukawa Y, Hashizume H, Minamide A, Iwasaki H, Nagata K, Taiji R, Schoenfeld AJ, Simpson AK, Yamada H
BMC Musculoskelet Disord 2022 Mar 14;23(1):245. doi: 10.1186/s12891-022-05204-0. PMID: 35287645Free PMC Article
Wang H, Li W
Int Orthop 2020 Jul;44(7):1375-1383. Epub 2020 May 21 doi: 10.1007/s00264-020-04632-8. PMID: 32440815
Suratwala SJ, Cronin M, Kondra K, Leone V
Spine Deform 2016 Sep;4(5):385-389. Epub 2016 Aug 21 doi: 10.1016/j.jspd.2016.04.001. PMID: 27927497
Toyone T, Shiboi R, Ozawa T, Inada K, Shirahata T, Kamikawa K, Watanabe A, Matsuki K, Ochiai S, Kaiho T, Morikawa Y, Sota K, Yasuchika A, Gen I, Sumihisa O, Ohtori S, Takahashi K, Wada Y
Spine (Phila Pa 1976) 2012 Oct 1;37(21):1847-52. doi: 10.1097/BRS.0b013e31825bf644. PMID: 22565386

Prognosis

Takami M, Tsutsui S, Nagata K, Taiji R, Iwasaki H, Okada M, Minamide A, Yukawa Y, Hashizume H, Yamada H
J Neurosurg Spine 2024 Jan 1;40(1):70-76. Epub 2023 Oct 13 doi: 10.3171/2023.8.SPINE23520. PMID: 37856375
Xue X, Zhao S, Miao F, Li K, Zhao B
BMC Musculoskelet Disord 2021 Apr 2;22(1):327. doi: 10.1186/s12891-021-04201-z. PMID: 33810793Free PMC Article
Vibert B, Turati M, Rabattu PY, Bigoni M, Eid A, Courvoisier A
Childs Nerv Syst 2018 Apr;34(4):771-775. Epub 2017 Sep 16 doi: 10.1007/s00381-017-3598-4. PMID: 28918465
Matsumura A, Namikawa T, Kato M, Ozaki T, Hori Y, Hidaka N, Nakamura H
J Neurosurg Spine 2017 Feb;26(2):150-157. Epub 2016 Oct 7 doi: 10.3171/2016.7.SPINE16172. PMID: 27716016
Toyone T, Shiboi R, Ozawa T, Inada K, Shirahata T, Kamikawa K, Watanabe A, Matsuki K, Ochiai S, Kaiho T, Morikawa Y, Sota K, Yasuchika A, Gen I, Sumihisa O, Ohtori S, Takahashi K, Wada Y
Spine (Phila Pa 1976) 2012 Oct 1;37(21):1847-52. doi: 10.1097/BRS.0b013e31825bf644. PMID: 22565386

Clinical prediction guides

Takami M, Tsutsui S, Yukawa Y, Hashizume H, Minamide A, Iwasaki H, Nagata K, Taiji R, Schoenfeld AJ, Simpson AK, Yamada H
BMC Musculoskelet Disord 2022 Mar 14;23(1):245. doi: 10.1186/s12891-022-05204-0. PMID: 35287645Free PMC Article
Takami M, Taiji R, Tsutsui S, Iwasaki H, Okada M, Minamide A, Yukawa Y, Hashizume H, Yamada H
J Neurosurg Spine 2022 Jan 1;36(1):62-70. Epub 2021 Sep 3 doi: 10.3171/2021.3.SPINE201856. PMID: 34479187
Ho TY, Lin CW, Chang CC, Chen HT, Chen YJ, Lo YS, Hsiao PH, Chen PC, Lin CS, Tsou HK
BMC Musculoskelet Disord 2020 Nov 10;21(1):734. doi: 10.1186/s12891-020-03745-w. PMID: 33172435Free PMC Article
Wang H, Li W
Int Orthop 2020 Jul;44(7):1375-1383. Epub 2020 May 21 doi: 10.1007/s00264-020-04632-8. PMID: 32440815
Matsumura A, Namikawa T, Kato M, Ozaki T, Hori Y, Hidaka N, Nakamura H
J Neurosurg Spine 2017 Feb;26(2):150-157. Epub 2016 Oct 7 doi: 10.3171/2016.7.SPINE16172. PMID: 27716016

Supplemental Content

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