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Pelvic dysplasia-arthrogryposis of lower limbs syndrome

MedGen UID:
400731
Concept ID:
C1865294
Disease or Syndrome
Synonyms: Pelvic hypoplasia with lower-limb arthrogryposis; Ray Peterson Scott syndrome
 
Monarch Initiative: MONDO:0011235
OMIM®: 602484
Orphanet: ORPHA2840

Definition

Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs. [from ORDO]

Clinical features

From HPO
Scapular winging
MedGen UID:
66822
Concept ID:
C0240953
Anatomical Abnormality
Abnormal protrusion of the scapula away from the surface of the back.
Knee flexion contracture
MedGen UID:
98042
Concept ID:
C0409355
Finding
A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hip contracture
MedGen UID:
140815
Concept ID:
C0409354
Acquired Abnormality
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
Narrow chest
MedGen UID:
96528
Concept ID:
C0426790
Finding
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Narrow pelvis bone
MedGen UID:
336266
Concept ID:
C1848103
Finding
Reduced side to side width of the pelvis.
Paraspinal muscle hypertrophy
MedGen UID:
868295
Concept ID:
C4022689
Pathologic Function
Muscle hypertrophy affecting the paraspinal muscles.
Congenital foot contractures
MedGen UID:
870690
Concept ID:
C4025144
Congenital Abnormality
Arthrogryposis multiplex congenita
MedGen UID:
1830310
Concept ID:
C5779613
Disease or Syndrome
Multiple congenital contractures in different body areas.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPelvic dysplasia-arthrogryposis of lower limbs syndrome
Follow this link to review classifications for Pelvic dysplasia-arthrogryposis of lower limbs syndrome in Orphanet.

Professional guidelines

PubMed

Chamberlain R
Am Fam Physician 2021 Jan 15;103(2):81-89. PMID: 33448767
Drager J, Rasio J, Newhouse A
Arthroscopy 2020 Dec;36(12):2952-2953. doi: 10.1016/j.arthro.2020.09.022. PMID: 33276883
Antignani PL, Lazarashvili Z, Monedero JL, Ezpeleta SZ, Whiteley MS, Khilnani NM, Meissner MH, Wittens CH, Kurstjens RL, Belova L, Bokuchava M, Elkashishi WT, Jeanneret-Gris C, Geroulakos G, Gianesini S, de Graaf R, Krzanowski M, Al Tarazi L, Tessari L, Wikkeling M
Int Angiol 2019 Aug;38(4):265-283. Epub 2019 Jul 24 doi: 10.23736/S0392-9590.19.04237-8. PMID: 31345010

Recent clinical studies

Etiology

Meissner MH, Khilnani NM, Labropoulos N, Gasparis AP, Gibson K, Greiner M, Learman LA, Atashroo D, Lurie F, Passman MA, Basile A, Lazarshvilli Z, Lohr J, Kim MD, Nicolini PH, Pabon-Ramos WM, Rosenblatt M
J Vasc Surg Venous Lymphat Disord 2021 May;9(3):568-584. Epub 2021 Jan 30 doi: 10.1016/j.jvsv.2020.12.084. PMID: 33529720
Menéndez C, Batalla L, Prieto A, Rodríguez MÁ, Crespo I, Olmedillas H
Int J Environ Res Public Health 2020 Oct 13;17(20) doi: 10.3390/ijerph17207457. PMID: 33066291Free PMC Article
Reiman MP, Agricola R, Kemp JL, Heerey JJ, Weir A, van Klij P, Kassarjian A, Mosler AB, Ageberg E, Hölmich P, Warholm KM, Griffin D, Mayes S, Khan KM, Crossley KM, Bizzini M, Bloom N, Casartelli NC, Diamond LE, Di Stasi S, Drew M, Friedman DJ, Freke M, Gojanovic B, Glyn-Jones S, Harris-Hayes M, Hunt MA, Impellizzeri FM, Ishøi L, Jones DM, King MG, Lawrenson PR, Leunig M, Lewis CL, Mathieu N, Moksnes H, Risberg MA, Scholes MJ, Semciw AI, Serner A, Thorborg K, Wörner T, Dijkstra HP
Br J Sports Med 2020 Jun;54(11):631-641. Epub 2020 Jan 20 doi: 10.1136/bjsports-2019-101453. PMID: 31959678
Baldon Rde M, Serrão FV, Scattone Silva R, Piva SR
J Orthop Sports Phys Ther 2014 Apr;44(4):240-251, A1-A8. Epub 2014 Feb 25 doi: 10.2519/jospt.2014.4940. PMID: 24568258
Gloviczki P, Comerota AJ, Dalsing MC, Eklof BG, Gillespie DL, Gloviczki ML, Lohr JM, McLafferty RB, Meissner MH, Murad MH, Padberg FT, Pappas PJ, Passman MA, Raffetto JD, Vasquez MA, Wakefield TW; Society for Vascular Surgery; American Venous Forum
J Vasc Surg 2011 May;53(5 Suppl):2S-48S. doi: 10.1016/j.jvs.2011.01.079. PMID: 21536172

Diagnosis

Hu YE, Ho GWK, Tortland PD
Curr Sports Med Rep 2021 Jun 1;20(6):279-285. doi: 10.1249/JSR.0000000000000848. PMID: 34099604
Basile A, Failla G, Gozzo C
Semin Ultrasound CT MR 2021 Feb;42(1):3-12. Epub 2020 Jul 9 doi: 10.1053/j.sult.2020.07.001. PMID: 33541587
Chamberlain R
Am Fam Physician 2021 Jan 15;103(2):81-89. PMID: 33448767
Drager J, Rasio J, Newhouse A
Arthroscopy 2020 Dec;36(12):2952-2953. doi: 10.1016/j.arthro.2020.09.022. PMID: 33276883
Menéndez C, Batalla L, Prieto A, Rodríguez MÁ, Crespo I, Olmedillas H
Int J Environ Res Public Health 2020 Oct 13;17(20) doi: 10.3390/ijerph17207457. PMID: 33066291Free PMC Article

Therapy

Basile A, Failla G, Gozzo C
Semin Ultrasound CT MR 2021 Feb;42(1):3-12. Epub 2020 Jul 9 doi: 10.1053/j.sult.2020.07.001. PMID: 33541587
Szymanski J, Jakiel G, Slabuszewska-Jozwiak A
Ginekol Pol 2020;91(11):704-708. doi: 10.5603/GP.a2020.0093. PMID: 33301167
Koo S, Fan CM
Tech Vasc Interv Radiol 2014 Jun;17(2):90-5. doi: 10.1053/j.tvir.2014.02.005. PMID: 24840963
Baldon Rde M, Serrão FV, Scattone Silva R, Piva SR
J Orthop Sports Phys Ther 2014 Apr;44(4):240-251, A1-A8. Epub 2014 Feb 25 doi: 10.2519/jospt.2014.4940. PMID: 24568258
Gloviczki P, Comerota AJ, Dalsing MC, Eklof BG, Gillespie DL, Gloviczki ML, Lohr JM, McLafferty RB, Meissner MH, Murad MH, Padberg FT, Pappas PJ, Passman MA, Raffetto JD, Vasquez MA, Wakefield TW; Society for Vascular Surgery; American Venous Forum
J Vasc Surg 2011 May;53(5 Suppl):2S-48S. doi: 10.1016/j.jvs.2011.01.079. PMID: 21536172

Prognosis

Khilnani NM, Winokur RS, Scherer KL, Meissner MH
Tech Vasc Interv Radiol 2021 Mar;24(1):100730. Epub 2021 Apr 16 doi: 10.1016/j.tvir.2021.100730. PMID: 34147196
Meissner MH, Khilnani NM, Labropoulos N, Gasparis AP, Gibson K, Greiner M, Learman LA, Atashroo D, Lurie F, Passman MA, Basile A, Lazarshvilli Z, Lohr J, Kim MD, Nicolini PH, Pabon-Ramos WM, Rosenblatt M
J Vasc Surg Venous Lymphat Disord 2021 May;9(3):568-584. Epub 2021 Jan 30 doi: 10.1016/j.jvsv.2020.12.084. PMID: 33529720
Drager J, Rasio J, Newhouse A
Arthroscopy 2020 Dec;36(12):2952-2953. doi: 10.1016/j.arthro.2020.09.022. PMID: 33276883
Reiman MP, Agricola R, Kemp JL, Heerey JJ, Weir A, van Klij P, Kassarjian A, Mosler AB, Ageberg E, Hölmich P, Warholm KM, Griffin D, Mayes S, Khan KM, Crossley KM, Bizzini M, Bloom N, Casartelli NC, Diamond LE, Di Stasi S, Drew M, Friedman DJ, Freke M, Gojanovic B, Glyn-Jones S, Harris-Hayes M, Hunt MA, Impellizzeri FM, Ishøi L, Jones DM, King MG, Lawrenson PR, Leunig M, Lewis CL, Mathieu N, Moksnes H, Risberg MA, Scholes MJ, Semciw AI, Serner A, Thorborg K, Wörner T, Dijkstra HP
Br J Sports Med 2020 Jun;54(11):631-641. Epub 2020 Jan 20 doi: 10.1136/bjsports-2019-101453. PMID: 31959678
Gloviczki P, Comerota AJ, Dalsing MC, Eklof BG, Gillespie DL, Gloviczki ML, Lohr JM, McLafferty RB, Meissner MH, Murad MH, Padberg FT, Pappas PJ, Passman MA, Raffetto JD, Vasquez MA, Wakefield TW; Society for Vascular Surgery; American Venous Forum
J Vasc Surg 2011 May;53(5 Suppl):2S-48S. doi: 10.1016/j.jvs.2011.01.079. PMID: 21536172

Clinical prediction guides

Meissner MH, Khilnani NM, Labropoulos N, Gasparis AP, Gibson K, Greiner M, Learman LA, Atashroo D, Lurie F, Passman MA, Basile A, Lazarshvilli Z, Lohr J, Kim MD, Nicolini PH, Pabon-Ramos WM, Rosenblatt M
J Vasc Surg Venous Lymphat Disord 2021 May;9(3):568-584. Epub 2021 Jan 30 doi: 10.1016/j.jvsv.2020.12.084. PMID: 33529720
Gavrilov SG, Karalkin AV, Turischeva OO
Phlebology 2018 Jul;33(6):418-424. Epub 2017 Jun 22 doi: 10.1177/0268355517717424. PMID: 28639874
Baldon Rde M, Serrão FV, Scattone Silva R, Piva SR
J Orthop Sports Phys Ther 2014 Apr;44(4):240-251, A1-A8. Epub 2014 Feb 25 doi: 10.2519/jospt.2014.4940. PMID: 24568258
Gloviczki P, Comerota AJ, Dalsing MC, Eklof BG, Gillespie DL, Gloviczki ML, Lohr JM, McLafferty RB, Meissner MH, Murad MH, Padberg FT, Pappas PJ, Passman MA, Raffetto JD, Vasquez MA, Wakefield TW; Society for Vascular Surgery; American Venous Forum
J Vasc Surg 2011 May;53(5 Suppl):2S-48S. doi: 10.1016/j.jvs.2011.01.079. PMID: 21536172
Vogel F Jr
Clin Podiatry 1984 Dec;1(3):581-99. PMID: 6536410

Recent systematic reviews

Jauregui JJ, Salmons HI, Meredith SJ, Oster B, Gopinath R, Adib F
Int Orthop 2020 Dec;44(12):2559-2566. Epub 2020 Oct 22 doi: 10.1007/s00264-020-04857-7. PMID: 33094401
Menéndez C, Batalla L, Prieto A, Rodríguez MÁ, Crespo I, Olmedillas H
Int J Environ Res Public Health 2020 Oct 13;17(20) doi: 10.3390/ijerph17207457. PMID: 33066291Free PMC Article
Barbosa ABM, Santos PVD, Targino VA, Silva NA, Silva YCM, Gomes FB, Assis TO
Arq Neuropsiquiatr 2019;77(9):646-653. Epub 2019 Sep 23 doi: 10.1590/0004-282X20190093. PMID: 31553395
Semciw A, Neate R, Pizzari T
J Electromyogr Kinesiol 2016 Oct;30:98-110. Epub 2016 Jun 17 doi: 10.1016/j.jelekin.2016.06.005. PMID: 27367574
Neal BS, Barton CJ, Gallie R, O'Halloran P, Morrissey D
Gait Posture 2016 Mar;45:69-82. Epub 2015 Dec 29 doi: 10.1016/j.gaitpost.2015.11.018. PMID: 26979886

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