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The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study
BackgroundSkeletal dysplasias are a diverse group of rare disorders in the chondro-osseous tissue that can have a significant impact on patient’s...
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A rare case report of non-syndromic unilateral cerebellar dysplasia and hypoplasia: a diagnostic enigma
BackgroundCerebellar malformations are broadly categorized into hypoplasias and dysplasias, which are further divided based on focal or diffuse...
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Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
IntroductionDominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as...
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Sulcus-Deepening Trochleoplasty for High-Grade Trochlear Dysplasia: Demystifying the Procedure—a Review of the Current Literature
Purpose of ReviewThe most common and biomechanically influential pathoanatomic risk factor for recurrent patellofemoral instability is trochlear...
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
BackgroundSkeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate...
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Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review
ObjectiveThe objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with...
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A primer on skeletal dysplasias
Skeletal dysplasia encompasses a heterogeneous group of over 400 genetic disorders. They are individually rare, but collectively rather common with...
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SP7: from Bone Development to Skeletal Disease
Purpose of ReviewThe purpose of this review is to summarize the different roles of the transcription factor SP7 in regulating bone formation and...
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Mesenchymal stromal cells from a progressive pseudorheumatoid dysplasia patient show altered osteogenic differentiation
BackgroundProgressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive non-inflammatory skeletal disease with childhood onset and is...
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Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects – a cross-sectional survey study
BackgroundSkeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about...
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The Proportion of Normalized Hips with Growth in Japanese Adolescents Aged > 10 years with Acetabular Dysplasia who Presented with Suspected Scoliosis
BackgroundIf asymptomatic acetabular dysplasia (AD) is incidentally identified in adolescence, it is difficult to determine the appropriate follow-up...
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An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report
BackgroundImmunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an ultra-rare genetic condition that belongs to the group of...
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Role of Wnt signaling and sclerostin in bone and as therapeutic targets in skeletal disorders
SummaryWnt signaling and its bone tissue–specific inhibitor sclerostin are key regulators of bone homeostasis. The therapeutic potential of...
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Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype
Purpose of ReviewMulticentric carpotarsal osteolysis (MCTO) is an ultra-rare disorder characterized by osteolysis of the carpal and tarsal bones,...
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A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome: a multicenter prospective observational study
BackgroundFibrous dysplasia/McCune-Albright syndrome (FD/MAS) may cause pain, impaired ambulation and decreased quality of life (QoL). International...
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Looking for the skeleton in the closet—rare genetic diagnoses in patients with diabetes and skeletal manifestations
AimsThe precision medicine approach of tailoring treatment to the individual characteristics of each patient has been a great success in monogenic...
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MPFL reconstruction and tibial tuberosity transposition in patients with patellar instability: May it troubleshots also trochlear dysplasia?
PurposeThis study aimed to highlight short- and medium-term outcomes of combined medial patello-femoral ligament (MPFL) reconstruction and anterior...
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Unlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology
I-cell disease (Mucolipidosis Type II) is a rare lysosomal storage disorder caused by GNPTAB gene defects, leading to severe morbidity and mortality....
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Craniofacial syndromes and class III phenotype: common genotype fingerprints? A sco** review and meta-analysis
AbstractSkeletal Class III (SCIII) is among the most challenging craniofacial dysmorphologies to treat. There is, however, a knowledge gap regarding...
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A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy
BackgroundAlterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7 -related skeletal myopathies are extremely rare, and the vast...
