MUltiple + epiphyseal + dysplasia

Double-layered patella (DLP) is an osseous disorder associated with multiple epiphyseal dysplasia (MED). A thorough investigation should be conducted prior to surgery to assess the role of each layer and their vascularization in order to establish the best surgical strategy. We present the case of a woman in her late 50s with MED, bilateral DLP, and secondary osteoarthritis treated by a left total knee arthroplasty (TKA). To plan the surgical procedure, bilateral knee magnetic resonance imaging was obtained to study the anatomy of the two bony layers and their relationship to the extensor mechanism...

Hemimelic epiphyseal dysplasia HED also known as Trevor's disease is a rare pathology, characterized by a developmental disorder of an internal or external half of one or more epiphyses of a limb, mainly the lower limb, and/or of the short tarsal bones in children and young adolescents, with a male predominance. Its etiology remains unclear. Its clinical symptomatology is variable, ranging from asymptomatic involvement to orthopedic complications such as limb length inequality. As the clinic is non-specific, radiological assessment is the essential diagnostic tool for Trevor's disease, including standard radiography, MRI, CT, and possibly biopsy in some cases...

Hip containment surgeries in multiple epiphyseal and spondyloepiphyseal dysplasia (MED/SED) patients aim to improve the mechanical environment of the hip joint. The purpose of this study was to determine if surgical intervention to improve femoral head coverage improved radiographic and clinical outcomes. A retrospective study identified patients with MED/SED seen in clinic between May 2000 and September 2017, with a minimum of 2-year follow-up. Patient charts/radiographs were reviewed for radiographic hip measurements, pain, and gait...

PURPOSE: Acetabular dysplasia (AD) is a debilitating condition which results in impaired hip function, leading to hip-spine syndrome with anomalies identifiable on plain radiographs. However, no study to date has investigated the association between radiographic spine anomalies and functional outcomes in AD. We hypothesize that AD patients with radiographic evidence of lumbar spine anomalies are associated with decreased function in comparison to those without such radiographic findings...

Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurrent pathogenic alleles. We considered 106 exomes of subjects of Russian origin and revealed 13 genetic variants, which occurred more than twice and fulfilled the criteria for pathogenicity. All these alleles turned out to be indeed recurrent, as revealed by the analysis of 1045 healthy Russian donors...

Objectives: Multiple epiphyseal dysplasia (MED) and spondyloepiphyseal dysplasia (SED) are skeletal dysplasias associated with premature osteoarthritis and short stature. Patients with SED often have spinal and ocular problems. Few reports have focused on the health-related quality of life (HRQoL) of patients with skeletal dysplasias associated with premature osteoarthritis. The purpose of this study was to evaluate the HRQoL of adult patients with MED and SED. Methods: Questionnaires covering demographics, medical history (cataract, retinal detachment, and osteoarthritis), surgical history (osteotomy and arthroplasty), and the Short Form-36 (SF-36) health survey were sent to all patients with MED and SED with medical records at the investigators' institutions...

Multiple epiphyseal dysplasia (MED) is a phenotypically heterogeneous disease associated with orthopedic abnormalities among other systemic manifestations. While the spectrum of ocular abnormalities in this disorder is yet to be fully reported, MED has been rarely associated in the literature with the development of cataracts and keratoconus. Here, we report a case of bilateral massager-induced anterior subcapsular cataracts and keratoconus in a 46-year-old female with MED. This case presentation aims to prevent similar occurrences of inappropriate massaging device use and highlight potential ocular findings in MED patients...

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia type 1 (MED1) are two rare skeletal disorders caused by cartilage oligomeric matrix protein (COMP) variants. This study aims to analyze the genotype and phenotype of patients with COMP variants. Clinical information for 14 probands was collected; DNA was extracted from blood for COMP variant detection. Clinical manifestations and radiology scoring systems were established to evaluate the severity of each patient's condition. Serum COMP levels in PSACH patients and healthy subjects were measured...

The role of genetics in the development of osteoarthritis is well established but the molecular bases are not fully understood. Here, we describe a family carrying a germline mutation in COMP ( Cartilage Oligomeric Matrix Protein ) associated with three distinct phenotypes. The index case was enrolled for a familial form of idiopathic early-onset osteoarthritis. By screening potential causal genes for osteoarthritis, we identified a heterozygous missense mutation of COMP (c.1358C>T, p.Asn453Ser), absent from genome databases, located on a highly conserved residue and predicted to be deleterious...

Fibrous dysplasia, including McCune-Albright syndrome, is a genetic, non-inheritable benign bone disorder that may involve a single or multiple bone, typically occurring in the diaphysis or the metaphysis of long bones. In very rare instances polyostotic fibrous dysplasia present involvement of the epiphysis in long bones. Aneurysmal bone cysts are benign, expansile, lytic bone lesions formed by cystic cavities containing blood, that may occur de novo or secondary to other lesions of bone, including fibrous dysplasia...

OBJECTIVE: We report a probable case of multiple skeletal dysplasia observed in a Late Iron Age young adult male. MATERIALS: The individual studied belongs to a Late Iron Age necropolis from Switzerland. The skeletal elements are well preserved METHODS: Macroscopic and radiographic assessment. RESULTS: The individual shows evidence of both craniofacial and mandibular deformation. Developmental defects are also visible with effects on the general shape and articular surfaces of both humeri, as well as the left femur and tibia...

Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have not been recently explored. This registry-based study aimed to investigate the current incidence of DTD in Finland, characterize the national cohort of pediatric subjects with DTD and review the disease-related literature...

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare overgrowth of cartilage that commonly arises in the epiphyseal bone of children. We report a rare case of DEH originating from a talus accompanied by multiple intra-articular free bodies in a 7-year-old patient with ankle instability. After the primary surgery for free body removal and microfracture technique for the cartilage defects in the ankle joint, the free body recurred. Secondary surgery of arthroscopic free body removal with lateral ankle ligament repair succeeded in treating the patient, without further recurrence of the free body...

SMOC2 gene encodes a modular extracellular protein and its mutation causes multiple epiphyseal dysplasia (MED) which characterized by short stature and osteoarthritis. Here, we generated an induced pluripotent stem cell line from a MED patient with c. 1076T > G transition mutation in SMOC2 gene. The iPSCs line has a normal male karyotype and the same mutation as the MED patient. It also expresses pluripotent markers and can differentiate into the three germ layers.

BACKGROUND: Total knee arthroplasty (TKA) is particularly challenging in patients with marked deformities or existing hardware due to the inability to use traditional instrumentation. One potential technique to mitigate this obstacle is the use of patient-specific cutting guides. The purpose of this study was to evaluate the use of custom cutting guides in complex primary TKAs. METHODS: Twenty complex TKAs performed in 18 patients were identified. Of these, 11 were performed in patients with existing hardware, three in patients with dwarfism, three in patients with post-traumatic deformities, two in a patient with multiple epiphyseal dysplasia, and one in a patient with a large deformity from Blount's disease...

BACKGROUND: The rapid spread of genome-wide next-generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well-characterized molecular diagnosis. Here, we describe two patients with a rare combination of skeletal abnormalities and retinal dystrophy caused by variants in the SLC26A2 and ABCA4 genes, respectively, in a family with parental consanguinity. METHODS: Next-generation sequencing and Sanger sequencing were performed to obtain a molecular diagnosis for the retinal and skeletal phenotypes, respectively...

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic variants in nicotinamide mononucleotide adenylyltransferase 1 ( NMNAT1 ) as the molecular cause of the disease: c.439+5G>T and c.299+526_*968dup.This splice variant has never been reported to date, whereas pathogenic duplication has recently been associated with cases displaying an autosomal recessive disorder that includes a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and LCA (SHILCA), as well as some brain anomalies...

The COL9A3 gene encodes one of the three alpha chains of Type IX collagen, with heterozygous variants reported to cause multiple epiphyseal dysplasia, and suggested as contributory in some cases of sensorineural hearing loss. Patients with homozygous variants have midface hypoplasia, myopia, sensorineural hearing loss, epiphyseal changes and carry a diagnosis of Stickler syndrome. Variants in COL9A3 have not previously been reported to cause vitreoretinal degeneration and/or retinal detachments. This report describes two families with autosomal dominant inheritance and predominant features of peripheral vitreoretinal lattice degeneration and retinal detachment...

RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an individual with an RPL13-related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg-Calve-Perthes-like disease...

BACKGROUND: Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are congenital skeletal disorders characterized by irregular epiphyses, mild or severe short stature and early-onset osteoarthritis which frequently affect the hips. The current study evaluates the long-term results of the Chiari osteotomy in MED and PSACH patients. METHODS: Twenty patients (14 MED and 6 PSACH) were retrospectively included. Clinical assessment used the Postel Merle d'Aubigné (PMA) score and the Hip disability and Osteoarthritis Outcome Score (HOOS)...