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Lumbar hypolordosis

MedGen UID:
1841600
Concept ID:
C5826651
Anatomical Abnormality
Synonym: Reduced lumbar lordosis
 
HPO: HP:0034770

Definition

Flattening of a curve in the spine in the lumbar (lower back) region. [from HPO]

Conditions with this feature

Brachyolmia type 1, Hobaek type
MedGen UID:
338605
Concept ID:
C1849055
Disease or Syndrome
Rock et al. (2008) provided an overview of the brachyolmias, a heterogeneous group of skeletal dysplasias that affect primarily the spine. Type 1 brachyolmia includes the Hobaek and Toledo (BCYM1B; 271630) forms, which are inherited in an autosomal recessive fashion. Both forms of type 1 are characterized by scoliosis, platyspondyly with rectangular and elongated vertebral bodies, overfaced pedicles, and irregular, narrow intervertebral spaces. The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Type 2 brachyolmia (BCYM2; 613678), sometimes referred to as the Maroteaux type, is also an autosomal recessive disorder, primarily distinguished from type 1 by rounded vertebral bodies and less overfaced pedicles. Some cases are associated with precocious calcification of the falx cerebri. Type 3 brachyolmia (BCYM3; 113500) is an autosomal dominant form, caused by mutation in the TRPV4 gene (605427), with severe kyphoscoliosis and flattened, irregular cervical vertebrae. Paradoxically, although the limbs are mildly shortened in all types of brachyolmia, they show minimal epiphyseal and metaphyseal abnormalities on radiographs. Type 4 brachyolmia (BCYM4; 612847) is an autosomal recessive form, caused by mutation in the PAPSS2 gene (603005), with mild epiphyseal and metaphyseal changes.

Professional guidelines

PubMed

Güven O, Bezer M, Gökkuş K, Tetik C, Güven Z
Arch Orthop Trauma Surg 2001 Oct;121(9):517-20. doi: 10.1007/s004020100286. PMID: 11599754

Recent clinical studies

Etiology

Hori Y, Matsumura A, Namikawa T, Kato M, Iwamae M, Nakamura H
World Neurosurg 2021 May;149:e309-e315. Epub 2021 Feb 16 doi: 10.1016/j.wneu.2021.02.031. PMID: 33601080
Cheung JPY, Chong CHW, Cheung PWH
Bone Joint J 2019 Nov;101-B(11):1370-1378. doi: 10.1302/0301-620X.101B11.BJJ-2019-0515.R1. PMID: 31674249
Fujita N, Michikawa T, Yagi M, Suzuki S, Tsuji O, Nagoshi N, Okada E, Tsuji T, Nakamura M, Matsumoto M, Watanabe K
Eur Spine J 2019 Jan;28(1):87-93. Epub 2018 Oct 9 doi: 10.1007/s00586-018-5782-y. PMID: 30302540
Lin Y, Chen W, Chen A, Li F, Xiong W
World Neurosurg 2018 Mar;111:e830-e844. Epub 2018 Jan 5 doi: 10.1016/j.wneu.2017.12.161. PMID: 29309975
McCarthy JJ, Betz RR
Spine (Phila Pa 1976) 2000 Jan 15;25(2):211-3. doi: 10.1097/00007632-200001150-00011. PMID: 10685485

Diagnosis

Cheung JPY, Wong HL, Cheung PWH
BMC Musculoskelet Disord 2022 Aug 22;23(1):802. doi: 10.1186/s12891-022-05757-0. PMID: 35996091Free PMC Article
Hori Y, Matsumura A, Namikawa T, Kato M, Iwamae M, Nakamura H
World Neurosurg 2021 May;149:e309-e315. Epub 2021 Feb 16 doi: 10.1016/j.wneu.2021.02.031. PMID: 33601080
Rigo M, Quera-Salvá G, Villagrasa M
Stud Health Technol Inform 2006;123:90-4. PMID: 17108409
McCarthy JJ, Betz RR
Spine (Phila Pa 1976) 2000 Jan 15;25(2):211-3. doi: 10.1097/00007632-200001150-00011. PMID: 10685485

Therapy

Cheung JPY, Chong CHW, Cheung PWH
Bone Joint J 2019 Nov;101-B(11):1370-1378. doi: 10.1302/0301-620X.101B11.BJJ-2019-0515.R1. PMID: 31674249
Khanna K, Berven SH
J Neurosurg Spine 2017 Apr;26(4):426-429. Epub 2016 Dec 23 doi: 10.3171/2016.8.SPINE16571. PMID: 28009224
Cho KJ, Suk SI, Park SR, Kim JH, Choi SW, Yoon YH, Won MH
Eur Spine J 2009 Apr;18(4):531-7. Epub 2009 Jan 23 doi: 10.1007/s00586-009-0883-2. PMID: 19165507Free PMC Article
Czakwari A, Czernicki K, Durmala J
Stud Health Technol Inform 2008;140:107-10. PMID: 18810009
Labelle H, Dansereau J, Bellefleur C, de Guise J, Rivard CH, Poitras B
Spine (Phila Pa 1976) 1995 Jun 15;20(12):1406-9. PMID: 7676340

Prognosis

Cheung JPY, Wong HL, Cheung PWH
BMC Musculoskelet Disord 2022 Aug 22;23(1):802. doi: 10.1186/s12891-022-05757-0. PMID: 35996091Free PMC Article
Hori Y, Matsumura A, Namikawa T, Kato M, Iwamae M, Nakamura H
World Neurosurg 2021 May;149:e309-e315. Epub 2021 Feb 16 doi: 10.1016/j.wneu.2021.02.031. PMID: 33601080
Cheung JPY, Chong CHW, Cheung PWH
Bone Joint J 2019 Nov;101-B(11):1370-1378. doi: 10.1302/0301-620X.101B11.BJJ-2019-0515.R1. PMID: 31674249
Wimmer C, Wallnöfer P, Walochnik N, Krismer M, Saraph V
Clin Orthop Relat Res 2005 Oct;439:181-92. doi: 10.1097/01.blo.0000173252.95130.cb. PMID: 16205158

Clinical prediction guides

Cheung JPY, Wong HL, Cheung PWH
BMC Musculoskelet Disord 2022 Aug 22;23(1):802. doi: 10.1186/s12891-022-05757-0. PMID: 35996091Free PMC Article
Hori Y, Matsumura A, Namikawa T, Kato M, Iwamae M, Nakamura H
World Neurosurg 2021 May;149:e309-e315. Epub 2021 Feb 16 doi: 10.1016/j.wneu.2021.02.031. PMID: 33601080
Cheung JPY, Chong CHW, Cheung PWH
Bone Joint J 2019 Nov;101-B(11):1370-1378. doi: 10.1302/0301-620X.101B11.BJJ-2019-0515.R1. PMID: 31674249
Fujita N, Michikawa T, Yagi M, Suzuki S, Tsuji O, Nagoshi N, Okada E, Tsuji T, Nakamura M, Matsumoto M, Watanabe K
Eur Spine J 2019 Jan;28(1):87-93. Epub 2018 Oct 9 doi: 10.1007/s00586-018-5782-y. PMID: 30302540
Czakwari A, Czernicki K, Durmala J
Stud Health Technol Inform 2008;140:107-10. PMID: 18810009

Recent systematic reviews

Zwierzchowska A, Gaweł E, Maszczyk A, Roczniok R
Sci Rep 2022 May 25;12(1):8808. doi: 10.1038/s41598-022-12979-8. PMID: 35614193Free PMC Article
Hirase T, Ling JF, Haghshenas V, Thirumavalavan J, Dong D, Hanson DS, Marco RAW
Spine Deform 2022 Mar;10(2):267-281. Epub 2021 Nov 1 doi: 10.1007/s43390-021-00436-x. PMID: 34725791
Lin Y, Chen W, Chen A, Li F, Xiong W
World Neurosurg 2018 Mar;111:e830-e844. Epub 2018 Jan 5 doi: 10.1016/j.wneu.2017.12.161. PMID: 29309975

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