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Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome(NDGOA; SPG79B)

MedGen UID:
815995
Concept ID:
C3809665
Disease or Syndrome
Synonyms: Spastic paraplegia 79, autosomal recessive; SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): UCHL1 (4p13)
 
Monarch Initiative: MONDO:0014209
OMIM®: 615491
Orphanet: ORPHA352654

Definition

Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Ankle clonus
MedGen UID:
68672
Concept ID:
C0238651
Finding
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Fasciculations
MedGen UID:
5124
Concept ID:
C0015644
Sign or Symptom
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
Neurodegeneration
MedGen UID:
17999
Concept ID:
C0027746
Cell or Molecular Dysfunction
Progressive loss of neural cells and tissue.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Spastic paraplegia
MedGen UID:
20882
Concept ID:
C0037772
Disease or Syndrome
Spasticity and weakness of the leg and hip muscles.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Postural tremor
MedGen UID:
66696
Concept ID:
C0234378
Sign or Symptom
A type of tremors that is triggered by holding a limb in a fixed position.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Tetraparesis
MedGen UID:
78731
Concept ID:
C0270790
Finding
Weakness of all four limbs.
Hoffmann sign
MedGen UID:
78828
Concept ID:
C0277839
Sign or Symptom
A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
Abnormality of visual evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Myokymia
MedGen UID:
146882
Concept ID:
C0684219
Sign or Symptom
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Lower limb spasticity
MedGen UID:
220865
Concept ID:
C1271100
Finding
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Head titubation
MedGen UID:
299071
Concept ID:
C1608410
Sign or Symptom
A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
Loss of ambulation
MedGen UID:
332305
Concept ID:
C1836843
Finding
Inability to walk in a person who previous had the ability to walk.
Impaired vibration sensation at ankles
MedGen UID:
343107
Concept ID:
C1854372
Finding
A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.
Impaired proprioception
MedGen UID:
346424
Concept ID:
C1856691
Finding
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Myotonia
MedGen UID:
675119
Concept ID:
C0700153
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Ophthalmoparesis
MedGen UID:
155551
Concept ID:
C0751401
Sign or Symptom
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Opto-chiasmatic atrophy
MedGen UID:
1814115
Concept ID:
C5558380
Disease or Syndrome
Wasting (atrophy) of the optic chiasm.
Gaze-evoked nystagmus
MedGen UID:
1808161
Concept ID:
C5574666
Disease or Syndrome
Nystagmus made apparent by looking to the right or to the left.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEarly-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Follow this link to review classifications for Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome in Orphanet.

Professional guidelines

PubMed

Erhardt É, Molnár D
Nutrients 2022 May 6;14(9) doi: 10.3390/nu14091950. PMID: 35565916Free PMC Article
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Cunin V
Orthop Traumatol Surg Res 2015 Feb;101(1 Suppl):S109-18. Epub 2015 Jan 23 doi: 10.1016/j.otsr.2014.06.032. PMID: 25623270

Recent clinical studies

Etiology

Polsinelli AJ, Apostolova LG
Continuum (Minneap Minn) 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. PMID: 35678398Free PMC Article
Redman CWG, Staff AC, Roberts JM
Am J Obstet Gynecol 2022 Feb;226(2S):S907-S927. Epub 2021 Feb 2 doi: 10.1016/j.ajog.2020.09.047. PMID: 33546842
Samanta D, Cobb S, Arya K
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2098-2108. Epub 2019 May 31 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.013. PMID: 31160219
Villain N, Dubois B
Semin Neurol 2019 Apr;39(2):213-226. Epub 2019 Mar 29 doi: 10.1055/s-0039-1681041. PMID: 30925614
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Diagnosis

Polsinelli AJ, Apostolova LG
Continuum (Minneap Minn) 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. PMID: 35678398Free PMC Article
Erhardt É, Molnár D
Nutrients 2022 May 6;14(9) doi: 10.3390/nu14091950. PMID: 35565916Free PMC Article
Cornish EF, McDonnell T, Williams DJ
Front Immunol 2022;13:825075. Epub 2022 Apr 22 doi: 10.3389/fimmu.2022.825075. PMID: 35529853Free PMC Article
Risacher SL, Saykin AJ
Handb Clin Neurol 2019;167:191-227. doi: 10.1016/B978-0-12-804766-8.00012-1. PMID: 31753134Free PMC Article
Perry DC, Miller BL
Semin Neurol 2013 Sep;33(4):336-41. Epub 2013 Nov 14 doi: 10.1055/s-0033-1359316. PMID: 24234354

Therapy

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
Samanta D, Cobb S, Arya K
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2098-2108. Epub 2019 May 31 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.013. PMID: 31160219
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article
Jones RL, Swanton C, Ewer MS
Expert Opin Drug Saf 2006 Nov;5(6):791-809. doi: 10.1517/14740338.5.6.791. PMID: 17044806

Prognosis

Aronica E, Specchio N, Luinenburg MJ, Curatolo P
Brain 2023 Jul 3;146(7):2694-2710. doi: 10.1093/brain/awad048. PMID: 36806388Free PMC Article
Redman CWG, Staff AC, Roberts JM
Am J Obstet Gynecol 2022 Feb;226(2S):S907-S927. Epub 2021 Feb 2 doi: 10.1016/j.ajog.2020.09.047. PMID: 33546842
Samanta D, Cobb S, Arya K
J Stroke Cerebrovasc Dis 2019 Aug;28(8):2098-2108. Epub 2019 May 31 doi: 10.1016/j.jstrokecerebrovasdis.2019.05.013. PMID: 31160219
Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, da Silva Costa F, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
Int J Gynaecol Obstet 2019 May;145 Suppl 1(Suppl 1):1-33. doi: 10.1002/ijgo.12802. PMID: 31111484Free PMC Article
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A
Nat Rev Endocrinol 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. PMID: 29959430Free PMC Article

Clinical prediction guides

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R
Brain 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. PMID: 36757831Free PMC Article
Cornish EF, McDonnell T, Williams DJ
Front Immunol 2022;13:825075. Epub 2022 Apr 22 doi: 10.3389/fimmu.2022.825075. PMID: 35529853Free PMC Article
Redman CWG, Staff AC, Roberts JM
Am J Obstet Gynecol 2022 Feb;226(2S):S907-S927. Epub 2021 Feb 2 doi: 10.1016/j.ajog.2020.09.047. PMID: 33546842
Davis DH, Creavin ST, Yip JL, Noel-Storr AH, Brayne C, Cullum S
Cochrane Database Syst Rev 2021 Jul 13;7(7):CD010775. doi: 10.1002/14651858.CD010775.pub3. PMID: 34255351Free PMC Article
Poon LC, Shennan A, Hyett JA, Kapur A, Hadar E, Divakar H, McAuliffe F, da Silva Costa F, von Dadelszen P, McIntyre HD, Kihara AB, Di Renzo GC, Romero R, D'Alton M, Berghella V, Nicolaides KH, Hod M
Int J Gynaecol Obstet 2019 May;145 Suppl 1(Suppl 1):1-33. doi: 10.1002/ijgo.12802. PMID: 31111484Free PMC Article

Recent systematic reviews

Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P
Epilepsia 2024 Mar;65(3):709-724. Epub 2024 Jan 17 doi: 10.1111/epi.17880. PMID: 38231304
Oloumbou EF, Engone-Ondo JD, Mamimandjiami Idam I, Moussavou-Boudzanga P, Mfouo-Tynga I, Mouinga-Ondeme A
Viruses 2022 Dec 16;14(12) doi: 10.3390/v14122808. PMID: 36560812Free PMC Article
Davis DH, Creavin ST, Yip JL, Noel-Storr AH, Brayne C, Cullum S
Cochrane Database Syst Rev 2021 Jul 13;7(7):CD010775. doi: 10.1002/14651858.CD010775.pub3. PMID: 34255351Free PMC Article
Medlin JL, Hansen KE, McCoy SS, Bartels CM
Semin Arthritis Rheum 2018 Oct;48(2):198-204. Epub 2018 Jan 31 doi: 10.1016/j.semarthrit.2018.01.010. PMID: 29550111Free PMC Article
Tis JE, Karlin LI, Akbarnia BA, Blakemore LC, Thompson GH, McCarthy RE, Tello CA, Mendelow MJ, Southern EP; Growing Spine Committee of the Scoliosis Research Society
J Pediatr Orthop 2012 Oct-Nov;32(7):647-57. doi: 10.1097/BPO.0b013e3182694f18. PMID: 22955526

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