46 results match your criteria Genu Valgum Pediatrics


Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

J Investig Med High Impact Case Rep 2022 Jan-Dec;10:23247096221101844

Stanford University, CA, USA.

Pathogenic variants in are associated with Coffin-Lowry syndrome (CLS), an X-linked semidominant disorder characterized by intellectual disability, stimulus-induced drop attacks, distinctive facial features, progressive kyphoscoliosis, and digit anomalies in hemizygous males. Heterozygous females may also have features of CLS; however, there can be considerable phenotypic variation, often attributed to ratios of X-inactivation in various tissue types. Although skeletal anomalies and short stature are hallmarks of CLS, hypercalcemia has not been reported. Read More

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The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.

Turk J Pediatr 2021;63(6):1091-1096

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Background: Mucolipidosis type 3 gamma (ML-IIIγ) is an autosomal recessive, rare and slowly progressive lysosomal storage disease. Short stature, restricted joint mobility, thick skin, and flat face with mildly coarse features are major clinical findings. It usually manifests in the third year. Read More

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January 2022

A Novel Heterozygous Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report.

J Clin Res Pediatr Endocrinol 2021 Jul 2. Epub 2021 Jul 2.

Department of Pediatrics, Hallym University Kangdong Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.

variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of defects in a 9 year, 5 month-old girl born small for gestational age (SGA), presented with short stature, and was initially diagnosed with idiopathic growth hormone deficiency. She displayed several dysmorphic features including genu valgum, cubitus valgus, and recurrent patellar dislocations. Read More

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Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

Hum Genome Var 2021 May 7;8(1):17. Epub 2021 May 7.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital and Seoul National University College of Medicine, Seoul, Republic of Korea.

An 11-year-old Korean boy presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome. Scrutinizing the trio whole-exome sequencing data revealed novel compound heterozygous mutations of COL27A1 (c.[4229_4233dup]; [3718_5436del], p. Read More

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Pectus carinatum as the key to early diagnosis of Morquio A syndrome: a case report.

J Med Case Rep 2021 Apr 5;15(1):150. Epub 2021 Apr 5.

Department of Pediatrics, Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461, Japan.

Background: A 20-month-old Asian boy with normal growth presented with genu valgum, kyphosis, and pectus carinatum, with no neurological symptoms. No other symptoms suggestive of mucopolysaccharidoses, for example joint contracture and peculiar facies, were present.

Case Presentation: As part of our differential diagnosis we found elevated urine glycosaminoglycans, which triggered further investigation. Read More

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A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Cureus 2020 Mar 23;12(3):e7371. Epub 2020 Mar 23.

Pediatrics, Civil Hospital Karachi, Dow University of Health Sciences, Karachi, PAK.

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. Read More

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Phenotypes of a family with XLH with a novel mutation.

Hum Genome Var 2020 31;7. Epub 2020 Mar 31.

2Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked () gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case. Read More

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X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study).

J Bone Miner Res 2020 05 10;35(5):920-931. Epub 2020 Mar 10.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children - St. Louis, St. Louis, MO, USA.

X-linked hypophosphatemia (XLH), the most prevalent heritable renal phosphate (Pi) wasting disorder, is caused by deactivating mutations of PHEX. Consequently, circulating phosphatonin FGF23 becomes elevated and hypophosphatemia in affected children leads to rickets with skeletal deformity and reduced linear growth while affected adults suffer from osteomalacia and forms of ectopic mineralization. In 2015, we reported uniquely mild XLH in six children and four of their mothers carrying the non-coding PHEX 3'-UTR mutation c. Read More

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Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.

Orphanet J Rare Dis 2019 06 14;14(1):143. Epub 2019 Jun 14.

Genetics Department, Hospital Kuala Lumpur, Ministry of Health Malaysia, Jalan Pahang, 50586, Kuala Lumpur, Malaysia.

Background: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce. Read More

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Complete heart block in a boy with hyperostosis-hyperphosphataemia syndrome: a case report.

Eur Heart J Case Rep 2019 Mar 5;3(1):ytz003. Epub 2019 Feb 5.

Cardiology Department, Imam Khomeini Hospital, Tehran University of Medical Sciences, Keshavarz Blv, Tehran, Iran.

Background: Hyperostosis-hyperphosphataemia syndrome (HHS) is a rare metabolic disorder characterized by recurrent painful swelling of long bones and periosteal new bone formation.

Case Summary: A 6-year-old boy was referred to our centre due to bradycardia. He was diagnosed with HHS 3 years' prior, after investigation for the cause of joint pain and genu valgum. Read More

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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.

Ann Pediatr Endocrinol Metab 2018 Dec 31;23(4):229-234. Epub 2018 Dec 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate accompanied by bilateral genu valgum and short stature. He had received medical treatment with vitamin D (alfacalcidol) and phosphate from the age of 3 to 20 years. Read More

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December 2018

An 8-year-old with genu valgum: Answers.

Pediatr Nephrol 2019 04 26;34(4):621-624. Epub 2018 Sep 26.

Renal Section, Department of Pediatrics, Baylor College of Medicine, 1102 Bates St, Suite 245, Houston, TX, 77030, USA.

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An 8-year-old with genu valgum: Questions.

Pediatr Nephrol 2019 04 26;34(4):619-620. Epub 2018 Sep 26.

Renal Section, Department of Pediatrics, Baylor College of Medicine, 1102 Bates St, Suite 245, Houston, TX, 77030, USA.

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Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Am J Med Genet A 2018 09 31;176(9):2009-2016. Epub 2018 Jul 31.

Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Our understanding of the molecular basis of the genetic disorders of the skeleton has steadily increased, as the application of high-throughput sequencing technology has expanded. One of the newcomers is Spondyloepimetaphyseal dysplasia Faden-Alkuraya type. In this study, we aimed to further delineate the clinical, radiographic, and molecular findings of this entity in five affected individuals from two unrelated families. Read More

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September 2018

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Mol Genet Metab 2018 09 15;125(1-2):18-37. Epub 2018 May 15.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States; Department of Pediatrics, Shimane University, Shimane, Japan; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan. Electronic address:

Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is an autosomal recessive disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to the accumulation of specific glycosaminoglycans (GAGs), chondroitin-6-sulfate (C6S) and keratan sulfate (KS), which are mainly synthesized in the cartilage. Therefore, the substrates are stored primarily in the cartilage and its extracellular matrix (ECM), leading to a direct impact on bone development and successive systemic skeletal spondylepiphyseal dysplasia. Read More

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September 2018

Growth impairment in mucopolysaccharidoses.

Mol Genet Metab 2018 05 16;124(1):1-10. Epub 2018 Mar 16.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. Read More

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Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Medicine (Baltimore) 2018 Apr;97(14):e0309

Department of Pediatrics Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

Background: Camurati-Engelmann disease is an extremely rare disease characterized by hyperostosis of multiple long bones. This condition is caused by heterozygous mutations in the TGFB1 gene.

Methods: We describe the clinical and genetic characteristics of 4 Korean patients with this rare disease diagnosed at Asan Medical Center in Korea between June 2012 and May 2016, to increase awareness about this condition among general physicians and orthopedists. Read More

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Natural history of Morquio A patient with tracheal obstruction from birth to death.

Mol Genet Metab Rep 2018 Mar 22;14:59-67. Epub 2017 Dec 22.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of -acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity. In the absence of autopsied cases and systemic analysis of multiple tissues, the pathological mechanism of the characteristic skeletal dysplasia associated with the disease largely remains a question. Read More

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[Homozygous ectonucleotide pyrophosphatase/phosphodiesterase 1 variants in a girl with hypophosphatemic rickets and literature review].

Zhonghua Er Ke Za Zhi 2017 Nov;55(11):858-861

Department of Endocrinology, Capital Institute of Pediatrics, Beijing 100020, China.

To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" . The literature retrieval was confined from 1980 to February 2017. Read More

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November 2017

Clinical characterization of novel chromosome 22q13 microdeletions.

Int J Pediatr Otorhinolaryngol 2017 Apr 23;95:121-126. Epub 2016 Dec 23.

Division of Pediatric Otolaryngology, Department of Otolaryngology Head & Neck Surgery, University of Michigan Health System, C.S. Mott Children's Hospital, 1540 East Hospital Drive, Ann Arbor, MI 48109, USA.

Introduction: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS).

Objective: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS. Read More

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Mucopolysaccharidosis IVA and glycosaminoglycans.

Mol Genet Metab 2017 Jan - Feb;120(1-2):78-95. Epub 2016 Nov 29.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Read More

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Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.

Ann Pediatr Endocrinol Metab 2016 Sep 30;21(3):169-173. Epub 2016 Sep 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical and biochemical features of VDDR1A were found, such as hypocalcemia, increased alkaline phosphatase, secondary hyperparathyroidism and normal 25-hydroxyvitamin D3 (25(OH)D). Read More

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September 2016

Presentation of parathyroid adenoma with genu valgum and thoracic deformities.

J Pak Med Assoc 2016 Jan;66(1):101-3

Department of Pathology, Fatima Memorial Hospital, Shadman, Lahore.

Parathyroid adenoma is the main cause of primary hyperparathyroidism. It is usually asymptomatic and occurs more commonly in adults. It presents with raised parathormone (PTH) and Ca+ levels in serum. Read More

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January 2016

Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy.

Bone Rep 2015 Dec 9;3:57-60. Epub 2015 Sep 9.

Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.

Ectonucleotide pyrophosphatase/phosphodiesterase 1 () was originally reported as a responsible gene for generalized arterial calcification in infancy (GACI). Though the prognosis of GACI patients is poor because of myocardial infarction and heart failure in relation to medial calcification of the coronary arteries, some patients rescued by bisphosphonate treatment have been reported. Recently, is also reported as responsible for autosomal recessive hypophosphatemic rickets type 2. Read More

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December 2015

Correction of coronal plane deformities around the knee using a tension band plate in children younger than 10 years.

Indian J Orthop 2015 Mar-Apr;49(2):208-18

Department of Orthopaedic Surgery, Post Graduate Institute of Swasthiyog Pratishthan, Miraj, Maharashtra, India.

Background: Guided growth through temporary hemiepiphysiodesis has gained acceptance as the preferred primary treatment in treating pediatric lower limb deformities as it is minimally invasive with a lesser morbidity than the traditional osteotomy. The tension band plate is the most recent development in implants used for temporary hemiepiphysiodesis. Our aim was to determine its safety and efficacy in correcting coronal plane deformities around the knee in children younger than 10 years. Read More

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Therapies for the bone in mucopolysaccharidoses.

Mol Genet Metab 2015 Feb 9;114(2):94-109. Epub 2014 Dec 9.

Department of Pediatrics, Gifu University, Gifu, Japan. Electronic address:

Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and nose infections, inguinal and umbilical hernias, hepatosplenomegaly, and skeletal deformities. Clinical features related to bone lesions may include marked short stature, cervical stenosis, pectus carinatum, small lungs, joint rigidity (but laxity for MPS IV), kyphoscoliosis, lumbar gibbus, and genu valgum. Patients with MPS are often wheelchair-bound and physical handicaps increase with age as a result of progressive skeletal dysplasia, abnormal joint mobility, and osteoarthritis, leading to 1) stenosis of the upper cervical region, 2) restrictive small lung, 3) hip dysplasia, 4) restriction of joint movement, and 5) surgical complications. Read More

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February 2015

Lack of prolidase causes a bone phenotype both in human and in mouse.

Bone 2015 Mar 20;72:53-64. Epub 2014 Nov 20.

Department of Molecular Medicine, University of Pavia, Pavia, Italy. Electronic address:

The degradation of the main fibrillar collagens, collagens I and II, is a crucial process for skeletal development. The most abundant dipeptides generated from the catabolism of collagens contain proline and hydroxyproline. In humans, prolidase is the only enzyme able to hydrolyze dipeptides containing these amino acids at their C-terminal end, thus being a key player in collagen synthesis and turnover. Read More

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Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome.

Indian Pediatr 2014 Nov;51(11):919-20

Department of Pediatrics, Division of Genetics, MAMC and Associated Lok Nayak Hospital, New Delhi, India; and *John P Hussman Institute for Human Genetics, University of Miami, Miller Scool of Medicine, Miami, FL, USA. Correspondence to: Dr Seema Kapoor, M-439, Ground Floor, Guruharkishan Nagar, Paschim Vihar, New Delhi, India.

Background: Labyrinthine Aplasia, Microtia and Microdontia (LAMM) syndrome is characterized by the complete absence of inner ear structures (Michel aplasia), microtia and microdontia. Hypophosphatemic rickets results from defects in the renal tubular reabsorption of filtered phosphate.

Case Characteristics: 13-year-old Indian girl presented with deafness since infancy and progressive wrist widening and genu valgum for last one year. Read More

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November 2014

Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome.

Case Rep Pediatr 2013 10;2013:354314. Epub 2013 Dec 10.

Center for Cardiovascular and Pulmonary Research, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH 43205, USA.

Primary de Toni-Debré-Fanconi syndrome is a non-FGF23-mediated hypophosphatemic disorder due to a primary defect in renal proximal tubule cell function resulting in hyperphosphaturia, renal tubular acidosis, glycosuria, and generalized aminoaciduria. The orthopaedic sequela and response to treatment of this rare disorder are limited in the literature. Herein we report a long term followup of a 10-year-old female presenting at 1 year of age with rickets initially misdiagnosed as vitamin D deficiency rickets. Read More

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January 2014

Physiological referrals for paediatric musculoskeletal complaints: A costly problem that needs to be addressed.

Paediatr Child Health 2012 Nov;17(9):e93-7

Division of Orthopaedics, Shriners Hospital for Children, McGill University, Montreal, Quebec.

Background/objective: Referrals to paediatric orthopedists for physiologically normal conditions consume limited resources and delay care for patients. The goal of the present study was to formally define such referrals and determine their prevalence.

Methods: A retrospective review evaluated consecutive referrals to a single tertiary paediatric orthopedic centre over two eight-month periods. Read More

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November 2012