List of works - Hitesh Shah

A child with Erysipelothrix arthritis–beware of the little known ⬇️

scientific article published on June 1, 2012

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

scientific article published on 16 December 2015

A novel sequence variant in SFRP4 causing Pyle disease

scientific article published on 19 January 2017

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

scientific article published on 23 January 2014

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

scientific article published on 17 September 2012

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

scientific article published on 24 November 2015

Clinical utility of fetal autopsy and its impact on genetic counseling.

scientific article published on 5 April 2015

Congenital posteromedial bowing of the tibia: a retrospective analysis of growth abnormalities in the leg

scientific article published on 01 May 2009

Congenital pseudarthrosis of the tibia treated with intramedullary rodding and cortical bone grafting: a follow-up study at skeletal maturity

scientific article published on 01 January 2011

Congenital pseudarthrosis of the tibia: Management and complications

scientific article published on November 2012

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

scientific article

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

scientific article published on 27 February 2018

Does proximal femoral varus osteotomy in Legg-Calvé-Perthes disease predispose to angular mal-alignment of the knee? A clinical and radiographic study at skeletal maturity

scientific article published on 18 April 2013

Donor site morbidity following the harvesting of cortical bone graft from the tibia in children ⬇️

scientific article published on August 10, 2010

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Effect of prophylactic trochanteric epiphyseodesis in older children with Perthes' disease

scientific article published on 01 December 2009

Environmental tobacco and wood smoke increase the risk of Legg-Calvé-Perthes disease.

scientific article

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

scientific article

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

scientific article published on 22 September 2014

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

scientific article published on 17 September 2012

Handedness in diplegic cerebral palsy.

scientific article

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails

scientific article published on 01 October 2011

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

scientific article published on 10 November 2016

Intra-articular osteoid osteoma of the distal humerus: a diagnostic challenge.

scientific article published on 06 March 2014

Late presented case of distal humerus epiphyseal separation in a newborn.

scientific article

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis

scientific article

Management of severe crouch gait in children and adolescents with cerebral palsy

scientific article published on 01 December 2010

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

scientific article published on 25 March 2014

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

scientific article published on 24 October 2014

Novel and recurrent mutations in WISP3 and an atypical phenotype.

scientific article published on 18 May 2015

Perthes disease: evaluation and management

scientific article published on 26 September 2013

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

scientific article

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

scientific article published on 06 November 2018

Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg.

scientific article published on 3 February 2007

Quadricepsplasty for congenital dislocation of the knee and congenital quadriceps contracture

scientific article published on 19 September 2012

Quantitative Measures for Evaluating the Radiographic Outcome of Legg-Calvé-Perthes Disease ⬇️

scientific article published on February 20, 2013

Recurrent and novel GLB1 mutations in India

scientific article

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

scientific article

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome

scientific article published on 01 January 2011

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

scientific article published on 22 March 2018

Surgical management of the congenital dislocation of the knee and hip in children presented after six months of age

scientific article published on 08 August 2020

Talonavicular Arthrodesis for the Treatment of Neurological Flat Foot Deformity in Pediatric Patients ⬇️

scientific article published on 01 April 2013

The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type

scientific article published on 25 November 2011

The fate of the joint space in Legg-Calvé-Perthes' disease.

scientific article published on 20 June 2012

The sphericity deviation score: a quantitative radiologic outcome measure of Legg-Calvé Perthes disease applicable at the stage of healing and at skeletal maturity

scientific article published in July 2014

Thorn-induced pseudotumour of the fibula.

scientific article published on 16 May 2014

To what extent does remodeling of the proximal femur and the acetabulum occur between disease healing and skeletal maturity in Perthes disease? A radiological study

scientific article published on 01 October 2008

Unclassified tibial hemimelia.

scientific article published on 8 June 2016

What Factors Influence Union and Refracture of Congenital Pseudarthrosis of the Tibia? A Multicenter Long-term Study

scientific article published on 01 July 2018

List of works by Hitesh Shah

A child with Erysipelothrix arthritis–beware of the little known ⬇️

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

A novel sequence variant in SFRP4 causing Pyle disease

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Clinical utility of fetal autopsy and its impact on genetic counseling.

Congenital posteromedial bowing of the tibia: a retrospective analysis of growth abnormalities in the leg

Congenital pseudarthrosis of the tibia treated with intramedullary rodding and cortical bone grafting: a follow-up study at skeletal maturity

Congenital pseudarthrosis of the tibia: Management and complications

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Does proximal femoral varus osteotomy in Legg-Calvé-Perthes disease predispose to angular mal-alignment of the knee? A clinical and radiographic study at skeletal maturity

Donor site morbidity following the harvesting of cortical bone graft from the tibia in children ⬇️

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Effect of prophylactic trochanteric epiphyseodesis in older children with Perthes' disease

Environmental tobacco and wood smoke increase the risk of Legg-Calvé-Perthes disease.

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Handedness in diplegic cerebral palsy.

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

Intra-articular osteoid osteoma of the distal humerus: a diagnostic challenge.

Late presented case of distal humerus epiphyseal separation in a newborn.

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis

Management of severe crouch gait in children and adolescents with cerebral palsy

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Novel and recurrent mutations in WISP3 and an atypical phenotype.

Perthes disease: evaluation and management

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

Pre-axial mirror polydactyly associated with tibial deficiency: a study of the patterns of skeletal anomalies of the foot and leg.

Quadricepsplasty for congenital dislocation of the knee and congenital quadriceps contracture

Quantitative Measures for Evaluating the Radiographic Outcome of Legg-Calvé-Perthes Disease ⬇️

Recurrent and novel GLB1 mutations in India

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.

Surgical management of the congenital dislocation of the knee and hip in children presented after six months of age

Talonavicular Arthrodesis for the Treatment of Neurological Flat Foot Deformity in Pediatric Patients ⬇️

The fate of the hip in spondylo-epi-metaphyseal dysplasia: clinical and radiological evaluation of adults with SEMD Handigodu type

The fate of the joint space in Legg-Calvé-Perthes' disease.

The sphericity deviation score: a quantitative radiologic outcome measure of Legg-Calvé Perthes disease applicable at the stage of healing and at skeletal maturity

Thorn-induced pseudotumour of the fibula.

To what extent does remodeling of the proximal femur and the acetabulum occur between disease healing and skeletal maturity in Perthes disease? A radiological study

Unclassified tibial hemimelia.

What Factors Influence Union and Refracture of Congenital Pseudarthrosis of the Tibia? A Multicenter Long-term Study