35 results match your criteria Genu Valgum Pediatrics

  • Page 1 of 1

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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http://dx.doi.org/10.6065/apem.2018.23.4.229DOI Listing
December 2018

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

Pediatr Nephrol 2018 Sep 26. 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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http://dx.doi.org/10.1007/s00467-018-4090-4DOI Listing
September 2018
3 Reads

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

Pediatr Nephrol 2018 Sep 26. 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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http://dx.doi.org/10.1007/s00467-018-4086-0DOI Listing
September 2018
1 Read

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 Sep 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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http://dx.doi.org/10.1002/ajmg.a.40427DOI Listing
September 2018
5 Reads

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

Mol Genet Metab 2018 Sep 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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http://dx.doi.org/10.1016/j.ymgme.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175643PMC
September 2018
8 Reads
2.625 Impact Factor

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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http://dx.doi.org/10.1016/j.ymgme.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966322PMC
May 2018
4 Reads
1 Citation
2.620 Impact Factor

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

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

Department of Pediatrics.

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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http://dx.doi.org/10.1097/MD.0000000000010309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902284PMC
April 2018
1 Read

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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http://dx.doi.org/10.1016/j.ymgmr.2017.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758848PMC
March 2018
6 Reads

[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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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2017.11.014DOI Listing
November 2017
3 Reads

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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http://dx.doi.org/10.1016/j.ijporl.2016.12.008DOI Listing
April 2017
13 Reads

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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http://dx.doi.org/10.1016/j.ymgme.2016.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5293636PMC
August 2017
22 Reads

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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http://dx.doi.org/10.6065/apem.2016.21.3.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073165PMC
September 2016
15 Reads

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
2 Reads

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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http://dx.doi.org/10.1016/j.bonr.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5365274PMC
December 2015
8 Reads

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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http://dx.doi.org/10.4103/0019-5413.152484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436488PMC
May 2015
9 Reads

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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http://dx.doi.org/10.1016/j.ymgme.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312706PMC
February 2015
47 Reads

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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http://dx.doi.org/10.1016/j.bone.2014.11.009DOI Listing
March 2015
55 Reads

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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http://www.indianpediatrics.net/nov2014/919.pdf
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November 2014
8 Reads

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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http://dx.doi.org/10.1155/2013/354314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872385PMC
January 2014
2 Reads

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496363PMC
November 2012
4 Reads

Current and emerging treatments and surgical interventions for Morquio A syndrome: a review.

Res Rep Endocr Disord 2012 Dec;2012(2):65-77

Department of Pediatrics, Gifu University, Gifu, Japan.

Patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) have accumulation of the glycosaminoglycans, keratan sulfate, and chondroitin-6-sulfate, in bone and cartilage, causing systemic spondyloepiphyseal dysplasia. Features include lumbar gibbus, pectus carinatum, faring of the rib cage, marked short stature, cervical instability and stenosis, kyphoscoliosis, genu valgum, and laxity of joints. Generally, MPS IVA patients are wheelchair-bound as teenagers and do not survive beyond the second or third decade of life as a result of severe bone dysplasia, causing restrictive lung disease and airway narrowing, increasing potential for pneumonia and apnea; stenosis and instability of the upper cervical region; high risk during anesthesia administration due to narrowed airway as well as thoracoabdominal dysfunction; and surgical complications. Read More

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http://dx.doi.org/10.2147/RRED.S37278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4020877PMC
December 2012
48 Reads
24 Citations

Clinical, biochemical and radiological manifestations of severe vitamin d deficiency in adolescents versus children: response to therapy.

Georgian Med News 2012 Sep(210):58-64

Department of Pediatrics and Radiology, Hamad Medical Center, Doha, Qatar.

Objectives: to compare clinical, biochemical and radiological manifestations of severe vitamin D deficiency (VDD - serum 25 OH - vitamin D level <10 ng/ml) in adolescents and children and to investigate the effects of an intramuscular injection (IM) of vitamin D3 megadose.

Design: in this prospective study 36 adolescents and 45 children with severe VDD were studied. An IM dose (10,000 IU/kg, max 600,000 IU) of cholecalciferol was injected and parameters of calcium homeostasis were measured at intervals of 3 months. Read More

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September 2012
2 Reads

Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.

Curr Pharm Biotechnol 2011 Jun;12(6):931-45

Department of Pediatrics, Saint Louis University, MO 63104, USA.

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio A, is a rare, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme N-acetylgalatosamine-6-sulfate-sulfatase (GALNS), which catalyzes a step in the catabolism of glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S). It leads to accumulation of the KS and C6S, mainly in bone and cornea, causing a systemic skeletal chondrodysplasia. MPS IVA has a variable age of onset and variable rate of progression. Read More

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http://dx.doi.org/1389-2010/11 $58.00+.00DOI Listing
June 2011
7 Reads

Wilson's Disease Presenting as Resistant Rickets.

Gastroenterology Res 2011 Feb 20;4(1):34-35. Epub 2011 Jan 20.

Department of Pediatrics, Govt Medical College, Surat, India.

Wilson's disease is most common disorder of cooper metabolism. It has varied clinical presentations. We report a 12 years old female child presenting with genu valgum progressed over 6 months. Read More

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http://dx.doi.org/10.4021/gr262wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5139799PMC
February 2011
2 Reads

Distal femoral duplication and fibular agenesis associated with congenital cardiac defect.

Indian J Pediatr 2010 Feb 11;77(2):210-1. Epub 2009 Dec 11.

Faculty of Medicine, Department of Pediatrics, Karadeniz Technical University, Trabzon, Turkey.

A newborn, who had the congenital anomalies including protuberance on the right lower leg, bilateral equinovarus deformity of the feet, genu valgum with knee flexion deformity, syndactyly between the first and the second digit on the right, in addition with the absence of the fifth digit. Echocardiography revealed a secundum type atrial septal defect. The combination of these congenital defects associated with developmental anomalies of lower extremities. Read More

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http://dx.doi.org/10.1007/s12098-009-0228-5DOI Listing
February 2010
9 Reads

Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation.

Bone Marrow Transplant 2009 Sep 2;44(5):279-85. Epub 2009 Mar 2.

Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.

Children with Hurler syndrome experience progressive growth failure after hematopoietic cell transplantation (HCT). The goal of this study was to review the safety and efficacy of growth hormone (GH) in eight children with Hurler syndrome who were treated at our institution with GH for short stature or GH deficiency between 2005 and 2008. The age at initiation of treatment with GH was 9. Read More

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http://dx.doi.org/10.1038/bmt.2009.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071029PMC
September 2009
1 Read

Pyle metaphyseal dysplasia.

Indian Pediatr 2008 Apr;45(4):323-5

Genetic Subdivision, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India.

Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Read More

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April 2008
4 Reads

An Acadian variant of Fanconi syndrome.

Pediatr Nephrol 2007 Oct 10;22(10):1711-5. Epub 2007 Aug 10.

Department of Pediatrics, IWK Health Centre, Dalhouise University, 5850/5980 University Avenue, PO Box 9700, Halifax, Nova Scotia, B3K 6R8, Canada.

The Acadians were French settlers to Nova Scotia in the seventeenth century. In 1755, they were expelled by the British to various sites in the Americas, including Louisiana, where they are referred to as Cajuns. Many later migrated back to the Maritime Provinces of Canada. Read More

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http://dx.doi.org/10.1007/s00467-007-0553-8DOI Listing
October 2007
8 Reads

Treatment with deferiprone (L1) in a thalassemic patient with bone lesions due to desferrioxamine.

J Pediatr Endocrinol Metab 2000 Jun;13(6):677-80

Department of Pediatrics, Arcispedale S. Anna, Siracusa, Italy.

A male thalassemia major patient who developed bone and cartilage abnormalities with a standard dose of desferrioxamine (DFX) given subcutaneously from the age of 4 years was treated with the oral iron chelator deferiprone (L1). During L1 treatment an improvement of genu valgum, evidence of healing and filling in of bone at the periphery of knee metaphysis and improvement in growth velocity were observed. However, the sitting height had decreased further, confirming the irreversibility of platyspondylosis, so affecting the near final standing height (156. Read More

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June 2000
4 Reads

Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention.

J Pediatr Orthop 1999 Mar-Apr;19(2):270-4

Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA.

Hematopoietic stem cell transplantation has increased the survival of patients with Hurler syndrome. Genu valgum occurs frequently in untransplanted patients and has been noted in 52% of our patients after stable engraftment. No deformities spontaneously corrected. Read More

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May 1999
3 Reads

Osteomalacia with hypophosphatemia and hypercalciuria: a possible new variant of osteomalacia.

J Pediatr 1995 Jul;127(1):105-9

Department of Pediatrics, Medical College of Wisconsin, Milwaukee 53201-1997, USA.

A 12-year-old girl had a severe genu valgum deformity and osteomalacia with hypophosphatemia, hypercalciuria, and modestly elevated levels of 1,25-dihydroxyvitamin D3 and intact parathyroid hormone. This patient seems to have a different type of hypophosphatemic osteomalacia from that previously described. Read More

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July 1995
1 Read

Rickets in black children beyond infancy in Natal.

S Afr Med J 1995 Jul;85(7):668-72

Department of Paediatrics and Child Health, University of Natal.

Objective: To determine the clinical spectrum of rickets among black children admitted to King Edward VIII Hospital, Durban.

Design: Prospective study of black children with rickets beyond infancy.

Setting: Hospital-based population; King Edward VIII Hospital, Durban. Read More

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July 1995
37 Reads

Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities.

J Paediatr Child Health 1994 Oct;30(5):441-3

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.

A 14 year old girl with bilateral genu valgum of 6 years duration was brought for evaluation of primary hyperparathyroidism. She had clinical features of rickets such as frontal bossing, rachitic rosary, lumbar lordosis and fixed adduction deformity of the left leg. She had undergone osteotomy earlier for correction of these deformities without benefit. Read More

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October 1994
2 Reads

New syndrome: mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies.

Am J Med Genet 1991 Dec;41(4):405-9

Department of Pediatrics, University of Arizona Health Sciences Center, Tucson 85724.

We report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low-set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. Read More

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http://dx.doi.org/10.1002/ajmg.1320410404DOI Listing
December 1991
2 Reads

Development of the child's arch.

Foot Ankle 1989 Apr;9(5):241-5

University of Vermont, College of Medicine, Burlington 05405.

The purposes of the project were to monitor the development of the lower extremities and the longitudinal arch of the foot and to determine whether or not arch support footwear (three types) affected development of a neutral arch in toddlers 11 to 14 months of age until age 5 years. A total of 125 beginner walkers were recruited through the pediatrics department during a period of 1 1/2 years and divided by lot into four different footwear groups (one nonarch supportive). The group was studied for 4 years by physical examinations, x-ray films, and pedotopography (a Moire fringe technique of photography). Read More

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April 1989
6 Reads
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