Genetic skeletal dysplasias or osteochondrodysplasias constitute a large group of hereditable disorders with generalized skeletal involvement that can cause significant morbidity and mortality. Although most genetic skeletal dysplasias have been well identified clinically, the overlap between dysplasia subtypes may create diagnostic challenges. The plain radiographic presentation of genetic skeletal dysplasias may closely mimic rheumatologic, hematologic, and Perthes disease. Accurate review of the plain radiographic and clinical data may allow to prioritize and conduct gene sequencing tests efficiently. Bone imaging plays a distinctive role in diagnosis. We reviewed the radiologic profile of patients with some commonly seen skeletal dysplasias; achondroplasia, multiple epiphyseal dysplasia, pseudoachondroplasia, spondyloepiphyseal dysplasia tarda, osteogenesis imperfecta, mucopolysaccharidosis, and spondylometaphyseal and spondyloepimetaphyseal dysplasia. We proposed a specific radiographic approach to the differential diagnosis of commonly seen osteochondrodysplasias. The pictorial essay demonstrates that careful plain radiographic evaluation can be a very beneficial tool to the diagnostic process of osteochondrodysplasias.

Objectives: Molecular diagnosis of a large Saudi family presenting an autosomal dominant form of osteogenesis imperfecta (OI). Methods: Genetic analysis of the index patient was performed through 100× paired end whole exome sequencing (WES) covering 24,000 coding genes of the human genome. The causative variant was filtered out among the previously known 23 genes' panel reported for 17 subtypes of OI. The dominant segregation of the causative variant with the disease phenotype was confirmed by Sanger sequencing. Pathogenicity of the altered protein was predicted through SIFT, PolyPhen, and MutationTaster software. Results: A heterozygous variant (c.1801G>A; p. Gly601Ser) in exon 31 of collagen 1α2 was identified. In this study, WES was successfully applied to identify the molecular basis of OI in the proband. The rest of family members were confirmed through Sanger validation confirming the autosomal dominant mode of inheritance in large Saudi family. Conclusion: OI is a rare heterogeneous disorder of connective tissues with 17 overlapping subtypes, for which 23 genes are known. Our work adds to the growing list of disease-causing variants in COL1A2. Reporting the disease-causing variants is one of the best ways to share data for better and accurate variants interpretation. We tested that WES can be used as an efficient tool for the molecular diagnosis of this rare phenotype.

Objectives: Developmental dysplasia of the hip (DDH) describes a wide spectrum of abnormal hip development and maturation defects. Till date, there have been many classifications proposed to describe the severity of the disease based on individual hip joint pathology and radiological appearance. None of these classifications has taken patients with the bilateral hip disease into consideration. A new radiological classification system based on plain pelvic radiographs has been presented, combining all the pathological possibilities in both unilateral and bilateral cases and its reliability was assessed in patients aged 6-months and older. Methods: The plain anteroposterior pelvic radiographs of 120 DDH patients were classified according to the suggested classification system by five orthopedic surgeons. Inter- and intra-observer reliability was assessed to determine the reliability and validity of the new classification system. Results: Intraobserver differences were on an average 0, and interobserver differences were negligible. The intra- and inter-observer reliability was >97%. Conclusions: The classification system developed and tested in this study is highly reliable. Our system represents a complete classification than the systems already existing. This system of classification if applied in clinical practice will help in better describing and comparing the outcome in patients with bilateral disease instead of just focusing on the outcome of individual hip joints.

Objectives: With the wide use of swaddling, there is a concern that swaddling could potentially increase the risk of developmental dysplasia of the hips (DDH). A number of epidemiological studies from around the world have confirmed the association of improper swaddling with the lower limbs in adduction and extension with an increased risk of DDH, which is one of the common disorders in Saudi Arabia. This study aims to assess the prevalence of swaddling and the awareness of the females in Saudi Arabia about the correct method of swaddling and its relationship to DDH. Methods: This is a cross-sectional study, conducted using an online self-reported validated questionnaire. Results: The study involved 2631 adult females, 61% of them have children, out of which 91.3% used swaddling. Most of the ladies learnt how to swaddle from their family or friends while only 4% learnt from the health-care providers. More than 77% of the participants are not aware of the negative effects of swaddling on children's hips and around 63% did not know the correct swaddling method. 7% of them will use swaddling even if they know that it may harm their children. Conclusions: Awareness level among females in Saudi Arabia is suboptimal. Health-care providers should explain swaddling effects and demonstrate the technique for hip-friendly swaddling during ante- and post-natal care and in the media to reach all future mothers.

Monteggia fracture dislocation refers to a dislocation of the proximal radioulnar joint together with an ulnar fracture. Bado described four types of Monteggia lesions. Type I is the most common, where the radial head is dislocated anteriorly. Misdiagnosis of pediatric Monteggia fracture dislocations is fraught with potentially serious functional complications and treatment challenges. This is especially true in the event of late presentation and association with a simultaneous ipsilateral skeletal comorbidity. We present the case of a child with an extremely rare neglected type I Monteggia fracture dislocation associated with a displaced intra-articular medial humeral condyle fracture. We aim to demonstrate the radioclinical outcome of surgical management of this child and to offer possible mechanisms of injury found upon fracture characteristics and biomechanics. The patient was managed by a characteristic open surgical technique that offered satisfactory functional and radiologic outcomes on the short-term despite late presentation. We established correlations between the proposed injury mechanism, imaging abnormalities, and intraoperative findings that aided in management implementation.