Synostosis

Van Neck-Odelberg disease, also known as ischiopubic osteochondritis, is a rare cause of buttock or groin pain in the pediatric age group. The challenge in its diagnosis is due to its radiologic similarity. Ischiopubic synchondrosis occurs in childhood and is seen before the fusion of the pubis and ischium. With the advancement of age toward skeletal maturity, ischiopubic synchondrosis reduces in size and gradually vanishes due to synostosis or bony union. Here, we report the case of a 13-year-old girl who came to our outpatient department with complaints of bilateral groin pain for one year...

The diagnostic workout of ulnar sided wrist pain may be challenging, since there can be many different causes for it, varying from ulnar nerve problems to fractures. Congenital lunotriquetral synostosis may present as a source of pain in some cases, but it is a rare diagnosis. The author presents a case of post-traumatic ulnar sided wrist pain in a patient with Minnaar's type 1 congenital lunotriquetral synostosis.

Neonates born with severe multisuture synostosis can present as an emergency. The severe craniocerebral disproportion with or without underlying hydrocephalus and retruded midface can result in raised intracranial pressure and airway compromise within the first few days or weeks of life. This presents a challenging multidisciplinary condition. There is no international consensus on management. There are limited publications available describing the approach to treatment. In our unit, children who present in the neonatal period with severe multisuture synostosis are offered early open extensive suturectomy within the first few months of life...

OBJECTIVE: Fronto-orbital advancement involves removal of the fronto-orbital bandeau. Visualization of the saw blade is lost as it passes through the fronto-orbital-sphenoid junction (FOSJ), placing the temporal lobe at risk of injury. We aim to provide a 3D analysis of the space surrounding this osteotomy to differentiate various types of craniosynostoses. DESIGN: Retrospective cohort. SETTING: Institutional. PATIENTS: Thirty patients with isolated unicoronal synostosis, nonsyndromic bicoronal synostosis, metopic synostosis, Apert syndrome, Crouzon syndrome, and Muenke syndrome...

PURPOSE: To provide additional information on optimal start times and therapeutic effectiveness based on treatment outcome of Japanese infants with positional plagio- and brachycephaly (PPB) receiving cranial molding helmet therapy (CMHT). METHODS: In this retrospective cohort study, data from a 3D head scanning system was analyzed from 2173 Japanese infants who completed CMHT. Anterior and posterior symmetry ratio (ASR and PSR) and longitudinal to transverse diagonal ratios (LD/TDR) were calculated based on skull shape at helmet design and at completion of therapy...

Hemimelia denotes the partial or complete absence of the distal half of a limb. Ulna hemimelia, a rare congenital anomaly, involves the complete or partial absence of the ulna in the upper limb, with an incidence of 1 in 150,000. This condition has been classified into 4 types, with the rare Type 4 variant involving humeroradial synostosis. We present a unique case of bilateral complete ulna hemimelia, humeroradial synostosis, and oligodactyly, in an 11-month-old female with bilateral upper limb shortening and restricted elbow movement since birth...

OBJECTIVE: Crouzon syndrome with acanthosis nigricans (CAN) is caused by the specific mutation c.1172C>A (p.Ala391Glu) in the fibroblast growth factor receptor 3 gene, and has an estimated prevalence of 1:1,000,000 births. Most cases occur de novo; however, autosomal dominant inheritance may occur. The clinical presentation typically includes craniosynostosis, midface and maxillary hypoplasia, choanal atresia/stenosis, hydrocephalus, and intracranial hypertension. Patients develop acanthosis nigricans, a hyperkeratotic skin disorder...

A 15-year-old girl with humeroradial synostosis since birth underwent a resection arthroplasty. A trapezoidal resection osteotomy of approximately 2 cm was performed at the anterior part of the bone flexure. This resulted at 18 months in an elbow arc of motion of 60°-110° and forearm pronation/supination of 40° and 60° without postoperative complications and improved disabilities of the arm, shoulder and hand and Hand 20 scores. Radiographic analysis revealed a humeroradial joint with a maintained pseudarthrosis and hinged motion at the humeroulnar joint...

OBJECTIVE: Craniosynostosis involves early closure of one or more sutures, which is known to limit normal cranium growth and interfere with normal brain development. Various surgical methods are used, ranging from minimally invasive strip craniectomy to more extensive whole-vault cranioplasty. This study aimed to evaluate neurocognitive outcomes 5 years after surgical treatment in children with craniosynostosis and to evaluate relevant clinical factors. METHODS: After exclusion of genetically confirmed syndromic craniosynostosis patients, a retrospective review was conducted on 112 nonsyndromic craniosynostosis patients who underwent surgical treatment and follow-up neurocognitive assessment...

BACKGROUND/OBJECTIVES: Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these investigations may open novel therapeutic options for patients. In this study, we aimed to identify the genetic cause in an Iranian patient with severe skeletal dysplasia and to model its molecular function in zebrafish embryos. RESULTS: The proband displays short stature and multiple skeletal abnormalities, including mesomelic dysplasia of the arms with complete humero-radio-ulna synostosis, arched clavicles, pelvic dysplasia, short and thin fibulae, proportionally short vertebrae, hyperlordosis and mild kyphosis...

PURPOSE: This study seeks to investigate demographics of patients with Madelung deformity in a large, geographically diverse sample and understand patient and caregiver perceptions of the impact of this condition. We hypothesized that patients with untreated Madelung deformity have greater pain and lower function compared to the normal population but are less affected than the chosen control group, namely, patients with proximal radioulnar synostosis (PRUS). METHODS: This retrospective study queried the Congenital Upper Limb Differences (CoULD) Registry, a multicenter registry of patients treated in tertiary care pediatric hospitals...

Metopic synostosis patients are at risk for neurodevelopmental disorders despite a negligible risk of intracranial hypertension. To gain insight into the underlying pathophysiology of metopic synostosis and associated neurodevelopmental disorders, we aimed to investigate brain volumes of non-syndromic metopic synostosis patients using preoperative MRI brain scans. MRI brain scans were processed with HyperDenseNet to calculate total intracranial volume (TIV), total brain volume (TBV), total grey matter volume (TGMV), total white matter volume (TWMV) and total cerebrospinal fluid volume (TCBFV)...

BACKGROUND: Distal biceps tendon (DBT) pathology is a spectrum that ranges from tendinopathy to complete retracted ruptures, and surgical treatment is usually performed via open approaches. The purpose of this study was to analyze safety and long-term outcomes of all-endoscopic surgery for entire spectrum of primary DBT pathology. The hypothesis was that at an all-endoscopic technique would result in satisfactory clinical outcomes and a low complication rate. METHODS: Consecutive patients who underwent all-endoscopic surgery for primary isolated DBT pathology (bursitis, partial and acute/chronic complete tears) between January 2013 and December 2021 were assessed and analyzed retrospectively...

INTRODUCTION: The Boyd approach allows excellent access to the elbow and is used to treat complex elbow injuries using a single incision approach. MATERIALS AND METHODS: In this study, we retrospectively evaluated 16 patients with complex elbow injuries treated with open reduction and internal fixation using the Boyd approach between 2016 and 2018. RESULTS: All fractures were well united in anatomical position. Postoperatively, the range of motion was not significantly different between the affected and unaffected elbows...

forming a bony opening through which the vertebral artery (VA) enters the vertebral canal. Block vertebra is a synostosis of at least two vertebral bodies that did not separate during the embryological development. It is worth distinguishing it from the Klippel-Feil syndrome, as the latter oftentimes involves other abnormalities (namely skeletal) and is typically diagnosed in childhood. Both variants could potentially lead to an impairment of the blood flow through the VA. Case report: The following case report presents a finding of two anomalies of the cervical spine, found in a 38 y...

Congenital humeroradial synostosis (CHRS) is a rare musculoskeletal condition that significantly affects the mobility of the elbow joint. They occur in various types and forms depending on the types and numbers of bones involved at the elbow. CHRS may present with elbow deformity and limitation of function. Appropriate timely diagnosis and counseling are required since CHRS is mostly managed conservatively according to literature and may prevent avoidable fractures of the radius from attempts by parents to straighten the flexed fixed elbow and finally offer adequate time for delayed surgical intervention which is usually ineffective and unhelpful...

BACKGROUND: Craniofacial asymmetry associated with unicoronal synostosis (UCS) may persist into the teenage years despite surgery in infancy. This study evaluated outcomes following a nasal monobloc procedure by mobilizing a united nasomaxillary and bilateral medial orbital segment of bone (nasal monobloc) to perform corrective translational and rotational movement for secondary correction of residual nasal-orbital asymmetry associated with UCS. METHODS: A retrospective review of all UCS patients treated with nasal monobloc at our institution was performed...

OBJECTIVE: To evaluate the effect of an induced synostosis with a screw on pronation and supination in cats. STUDY DESIGN: Ex vivo biomechanical study. SAMPLE POPULATION: A total of 58 feline forelimbs. METHODS: A total of 58 cadaveric feline thoracic limbs were mounted on a custom-built jig with the elbow and carpus flexed at a 90° angle. To exclude any orthopedic disease, radiographs of the forelimbs were performed prior to the mechanical tests...

PURPOSE: Idiopathic intracranial hypertension (IIH) is a rare condition in children, but if diagnosed needs to be promptly treated to avoid clinical sequalae. The main purpose of this paper was to test our clinical experience with a cohort of normocephalic children with craniosynostosis who do not present in the routine way to craniofacial services, due to the normal head shape and age, diagnosed with IIH. METHODS: We retrospectively reviewed all children who were referred to neurosurgery from 2012 to 2022 for management of IIH on our prospectively kept database...

Craniosynostosis is traditionally treated with extensive cranial vault reconstructions (CVRs). Although less invasive techniques, such as endoscopic strip craniectomy with postoperative helmet therapy, have been successful, they also present difficulties. An alternative method is distraction osteogenesis using either manually controlled devices or specially designed springs. In this study, the authors provide the first comparison of spring-assisted surgery (SAS) with CVR for the treatment of unilambdoid synostosis (ULS)...