Resection Arthroplasty Is a Valuable Strategy for Humeroradial Synostosis - A Case Report.

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. When performed by an experienced surgeon, resection arthroplasty corrects humeroradial synostosis, resulting in improvement in range of motion and quality of life. Level of Evidence: Level V (Therapeutic).

The supracondylar process in the skeletal remains of a full-term fetus from Central Spain (V-VII century BC).

A rare case in the remains of a full-term fetus was recovered from the archaeological site 'Arriaca-Zaide' (Guadalajara, Spain) that dates to the century V-VII BC. The right humerus presents an osseous tubercle, fractured at its end that extends obliquely forward and medially, from the anteromedial aspect of the lower third of the humerus. It is a supracondylar process, a rare osseous anatomic variation. The presence of the supracondylar process in the fetal period allowed us to propose its congenital nature. Furthermore, its disposition and state of ossification allowed us to suggest that it was formed from the ossification center of the humeral diaphysis and not from a secondary ossification center. This case represents the first time that the supracondylar process during the fetal period has been described in the anthropological physical literature.

Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.

BACKGROUND: Studies exploring molecular mechanisms underlying congenital skeletal disorders have revealed novel regulators of skeletal homeostasis and shown protein glycosylation to play an important role. OBJECTIVE: To identify the genetic cause of rhizomelic skeletal dysplasia in a consanguineous Pakistani family. METHODS: Clinical investigations were carried out for four affected individuals in the recruited family. Whole genome sequencing (WGS) was completed using DNA from two affected and two unaffected individuals from the family. Sequencing data were processed, filtered and analysed. In silico analyses were performed to predict the effects of the candidate variant on the protein structure and function. Small interfering RNAs (siRNAs) were used to study the effect of Gnpnat1 gene knockdown in primary rat chondrocytes. RESULTS: The patients presented with short stature due to extreme shortening of the proximal segments of the limbs. Radiographs of one individual showed hip dysplasia and severe platyspondyly. WGS data analyses identified a homozygous missense variant c.226G>A; p.(Glu76Lys) in GNPNAT1, segregating with the disease. Glucosamine 6-phosphate N-acetyltransferase, encoded by the highly conserved gene GNPNAT1, is one of the enzymes required for synthesis of uridine diphosphate N-acetylglucosamine, which participates in protein glycosylation. Knockdown of Gnpnat1 by siRNAs decreased cellular proliferation and expression of chondrocyte differentiation markers collagen type 2 and alkaline phosphatase, indicating that Gnpnat1 is important for growth plate chondrocyte proliferation and differentiation. CONCLUSIONS: This study describes a novel severe skeletal dysplasia associated with a biallelic, variant in GNPNAT1. Our data suggest that GNPNAT1 is important for growth plate chondrogenesis.

Anatomy of the axillary arch: from its incidence in human to an embryologic and a phylogenetic explanation of its origins.

INTRODUCTION: Typically, the axillary arch is defined as a fleshy slip running from latissimus dorsi to the anterior aspect of the humerus. Phylogeny seems to give the most relevant and plausible explanation of this anatomical variant as a remnant of the panniculus carnosus. However, authors are not unanimous about its origin. We report herein the incidence of axillary arch in a series of 40 human female dissections and present an embryologic and a comparative study in three domestic mammals. MATERIALS AND METHODS: Forty formalin-preserved Caucasian human female cadavers, one rat (Rattus norvegicus), one rabbit (Oryctolagus cuniculus) and one pig (Sus scrofa domesticus) cadavers were dissected bilaterally. A comparative, analytical and a descriptive studies of serial human embryological sections were carried out. RESULTS: We found an incidence of axillary arch of 2.5% (n = 1 subject of 40) in Humans. We found a panniculus carnosus inserted on the anterior aspect of the humerus only in the rat and the rabbit but not in the pig. The development of the latissimus dorsi takes place between Carnegie stage 16-23, but the embryological study failed to explain the genesis of the axillary arch variation. However, comparative anatomy argues in favour of a panniculus carnosus origin of the axillary arch. CONCLUSIONS: With an incidence of 2.5% of cases, the axillary arch is a relatively frequent variant that should be known by clinician and especially surgeons. Moreover, while embryology seems to fail to explain the genesis of this variation, comparative study gives additional arguments which suggest a possible origin from the panniculus carnosus.

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.

Roberts syndrome (also known as Roberts-SC phocomelia syndrome) is an autosomal recessive developmental disorder, characterized by pre- and postnatal growth retardation, limb malformations including bilateral symmetric tetraphocomelia or mesomelia, and craniofacial dysmorphism. Biallelic loss-of-function variants in ESCO2, which codes for establishment of sister chromatid cohesion N-acetyltransferase 2, cause Roberts syndrome. Phenotypic spectrum among patients is broad, challenging clinical diagnosis in mildly affected individuals. Here we report a 3-year-old boy with a mild phenotype of Roberts syndrome with bilateral elbow contractures, humeroradial synostosis, mild lower limb disparity, and facial dysmorphism. Trio whole-exome sequencing identified the novel biallelic splice variant c.1673+1G>A in ESCO2 in the patient. Aberrant ESCO2 pre-mRNA splicing, reduced relative ESCO2 mRNA amount, and characteristic cytogenetic defects, such as premature centromere separation, heterochromatin repulsion, and chromosome breaks, in patient cells strongly supported pathogenicity of the ESCO2 variant affecting one of the highly conserved guanine-thymine dinucleotide of the donor splice site. Our case highlights the difficulty in establishing a clinical diagnosis in individuals with minor clinical features of Roberts syndrome and normal intellectual and social development. However, next-generation sequencing tools allow for molecular diagnosis in cases presenting with mild developmental defects.

Rare morphological variants of the bones: epicondylar processes, metopic suture and Wormian bones in XVIII century skeleton.

BACKGROUND: Analysis of the female skeleton from the 18th century revealed a collection of morphological changes. MATERIALS AND METHODS: Anthropological evaluation and dental X-ray techniques allowed the age to be determined at 12-13 years. RESULTS: The distal parts of the both humerus bones had distinct, supracondylar processes of about 5 mm at the medial-lateral surface. The frontal bone had a well-preserved metopic suture along the entire length of the squama. There were also two Wormian bones (Inca bones), asymmetrical mastoid foramen, and only left non-obliterated condylar canal. CONCLUSIONS: The skull measurements allowed the cranial index to be determined - 93.5 (brachycephalia) and height-length index - 98.6 (akrocephalus). Moreover, X-ray analysis of incomplete dentition was made.

Septal Aperture of the Humerus: Etiology and Frequency Rates in Two European Populations.

Analysis of the septal aperture was conducted on two documented European populations. Collections from the National Museum of Natural History Lisbon, Portugal, and University of Athens, Greece, were used for the study. Both collections are modern and documented for sex and age. The Portuguese sample comprises 297 individuals (149 males and 148 females) between the ages of 18 and 88. A septal aperture was observed in 50 individuals resulting in a frequency of 16.83%. The Greek sample comprises 117 individuals (68 males and 49 females) between the ages of 20 and 65. Twenty-five septal apertures were observed, giving a frequency of 21.37%. Both populations had high frequencies which exceeded those observed in European countries in previous studies. Sex analysis shows that both samples confirm that septal apertures are more common in females. The Portuguese sample also supports that septal apertures are more common in the left humerus; however, the Greek sample had a higher frequency of bilateral cases. Measurements of the Portuguese sample were taken to determine whether robusticity correlates with presence of septal apertures. These measurements concluded that there was no difference in robusticity with presence or absence of a septal aperture, challenging previous studies. Anat Rec, 2019. © 2019 American Association for Anatomy Anat Rec, 303:1821-1830, 2020. © 2019 American Association for Anatomy.

An osteoconductive PLGA scaffold with bioactive ß-TCP and anti-inflammatory Mg(OH)2 to improve in vivo bone regeneration.

Poly(lactic-co-glycolic acid) (PLGA) has been widely used as a biomaterial for pharmaceutical and medical applications. However, the decomposition products of PLGA are known to acidify the surrounding tissue of the implanted site, causing an inflammatory response. Previously, we developed PLGA/inorganic nanocomposites and optimized the amounts of inorganic compounds, ß-tricalcium phosphate (ß-TCP) and magnesium hydroxide [Mg(OH)2], in terms of osteogenesis of normal human osteoblasts and anti-inflammatory responses of preosteoclastic cells in vitro. In this study, the potential of the optimized PLGA/ß-TCP/Mg(OH)2 nanocomposite (TCP/MH) to promote bone repair through osteoinductive, osteoconductive, and anti-inflammatory abilities was assessed using a bone defect in a rat humeral defect model. PLGA nanocomposites with or without inorganic compounds, PLGA, ß-TCP, MH, and TCP/MH were prepared through one-step bulk modification using a twin-screw extruder. The resulting TCP/MH nanocomposite successfully enhanced the bone regeneration rate for allowing complete bone defect healing with significantly suppressed inflammatory responses. Taken together, the organic and inorganic bioactive nanocomposite developed in this study, TCP/MH, is a promising material in orthopedic implantation.

Comparison of curettage and bone grafting combined with elastic intramedullary nailing vs curettage and bone grafting in the treatment of long bone cysts in children.

To compare the efficacy of curettage and bone grafting combined with elastic intramedullary nailing (EIN) vs curettage and bone grafting in the treatment of long bone cysts in children and to clarify the necessity of using EIN in the treatment of bone cysts.Sixty-two patients were involved in this study from Jan. 2009 to Sept. 2017 (43 males, 19 females; 27 humeri, 35 femurs); the patients were assigned to an EIN group, comprising 30 patients who underwent curettage and bone grafting combined with EIN, or to a non-elastic intramedullary nailing (NEIN) group, comprising 32 patients who underwent curettage and bone grafting alone. The prognosis of the 2 groups was assessed with reference to the standard of Capanna.No statistically significant differences in sex, age, location, activity, pathological fracture, cyst volume, operative time and intraoperative blood loss were found between the 2 groups (P > .05). The effective rate was 90.0% in the EIN group and 68.8% in the NEIN group, and the difference was statistically significant (P < .05).Compared to simple curettage and bone grafting, curettage and bone grafting combined with EIN treatment can significantly improve the prognosis of children with bone cysts. It is recommended that EIN be added to bone cyst curettage and bone grafting.

[Treatment of severe distal humeral bone defects with three-dimensional printing technology].

Objective: To explore the application of three-dimensional (3D) printing technology in precise and individualized surgical treatment of severe distal humeral bone defect. Methods: Five patients with severe distal humeral bone defects were treated with customized 3D printing prostheses between December 2010 and December 2015. There were 4 males and 1 female, with an age of 23-57 years (mean, 35 years); and the length of the bone defect was 5-12 cm (mean, 8 cm). The cause of injury was mechanical injury in 2 cases and strangulation in 3 cases. All of them were the open fracture of Gustilo type Ⅲ. There were 2 cases of radial fracture, 1 case of cubital nerve injury, and 3 cases of radial nerve injury. The time from injury to one-stage operation was 6-18 hours (mean, 10 hours). The operation time, intraoperative blood loss, and intraoperative fluoroscopy were recorded. During follow-up, the anteroposterior and lateral X-ray films of the elbow joints were performed to identify whether there was prosthesis loosening; Mayo Elbow Performance Score (MEPS) and upper extremity Enneking score were used to evaluate limb function. Results: The operation time was 140-190 minutes (mean, 165 minutes). The intraoperative blood loss was 310-490 mL (mean, 415 mL). The intraoperative fluoroscopy was 1-3 times (mean, 1.6 times). Five patients were followed up 14-38 months (mean, 21 months). The wound exudate occurred in 1 case and cured after anti-inflammatory local dressing change; the subcutaneous hematoma occurred in 1 case, and improved after color Doppler ultrasound guided puncture and drainage. The MEPS scores and the Enneking scores were all significantly improved when compared with preoperative ones ( P<0.05). Except MEPS score between 6 and 12 months after operation had no significant difference ( P>0.05), there were significant differences in MEPS scores and Enneking scores between the other time points ( P<0.05). During the follow-up, no prosthetic loosening or joint dislocation occurred. Conclusion: 3D printing technology can achieve personalized treatment of severe distal humeral bone defects, obtain relatively good elbow joint function, and has less postoperative complications and satisfactory effectiveness.

Aloinjerto osteoarticular para reconstrucción de defecto óseo tras resección tumoral en húmero proximal: complicaciones y alternativas. Serie de casos y revisión de la literatura / Osteoarticular allografts for reconstruction of bone defects after proximal humerus tumour resection. Complications and options for reconstruction. Case series and review of the literature

Objetivo: Exponer nuestra experiencia en la reconstrucción de defecto óseo masivo de húmero proximal tras resección tumoral mediante aloinjerto estructural, analizar las complicaciones asociadas a la técnica, comparándolas con otras series publicadas, y revisar otras alternativas para la reconstrucción. Materiales y métodos: Presentamos una serie de cinco casos tratados mediante el mismo protocolo quirúrgico y por el mismo cirujano con diagnóstico de tumor maligno en húmero proximal o medio mediante reconstrucción con aloinjerto osteoarticular masivo. Analizamos las indicaciones y exponemos las complicaciones que aparecieron. Resultados: Se realizó la reconstrucción con aloinjerto osteoarticular a pacientes con diagnóstico de osteosarcoma (2 casos), sarcoma de Ewing, tumor de células gigantes y lesión metastásica de un cáncer de mama (1 caso). Se obtuvo, con un seguimiento medio de 3,8 años, una consolidación completa en todos los casos, en un tiempo medio de 12,6 meses. Dos pacientes tuvieron complicaciones en relación a fractura del aloinjerto o reabsorción de las tuberosidades. No hubo ningún caso de infección periimplante. Solo en un caso hubo recurrencia local de la enfermedad.Se realizó además una revisión bibliográfica sobre las complicaciones e indicaciones de las distintas técnicas de reconstrucción del húmero proximal. Conclusiones: Aunque con una tasa de complicaciones importante, la reconstrucción con aloinjerto osteoarticular es una opción válida especialmente en paciente activo, joven o pediátrico

Objetives: Massive structural allografts are a suitable option for the reconstruction of extensive tissue loss due to tumour resection. In this paper we report our experience and review indications and complications of this technique. Methods: This paper reports a five-case series of patients who were treated with the same surgical technique with malignant tumour located in proximal humerus. The reconstruction was made using osteoarticular allografts. The paper analyses the indications for the technique and reports the complications encountered. Results: The reconstructions with the massive allografts were performed in patients with diagnosis of osteosarcoma (2 cases), Ewing sarcoma, Giant cells tumour and breast metastase (1 case). After an average follow-up of 3.8 years, a complete bone fusión was achieved in all cases, in 12.6 months on average. Two patients had complications in relation to fracture. Infection did not occur in any of the cases. Only one case had a local recurrence of the tumour. In addition, literature about complications and indications for the different techniques for reconstruction of proximal humerus was reviewed. Conclusions: Reconstruction of the proximal humerus with osteoarticular allografts is a valid option especially in the functionally active patient, young or pediatric, in spite of a significant complication rate

Printing a 3-dimensional, Patient-specific Splint for Wound Immobilization: A Case Demonstration.

Three-dimensional (3D) printing technology can generate objects in almost any shape and geometry. This technique also has clinical applications, such as the fabrication of specific devices based on a patient's anatomy. A demonstration study is presented of a 54-year-old man who needed a thermoplastic splint to limit arm movement while a dehisced left shoulder wound healed. The patient's upper extremity was scanned using the appropriate noncontact scanner and 3D technology software, and the polylactic acid splint was printed over the course of 66 hours. This patient-specific splint was worn during the day, and after 2 weeks the wound was healed sufficiently to permit hospital discharge. Creation of an individualized splint is one of many potential medical uses of 3D technology. Although the lengthy printing time imposes limitations, the implications for practice are positive.

Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother's offspring.

A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism. Proximal metaphyses of humeri were µCT-scanned with a resolution of 7-12 µm. Three volumes of interest were segmented from each bone with TIVMI© software. The TBMA was quantified in BoneJ© using six parameters on which a multivariate analysis was then performed. Two of the Middenbeemster perinates show a quantitatively different TBMA organization. These results and the family's medical history suggest a diagnosis of genetic dwarfism for this two perinates. This study provides evidence to support the efficacy of µCT for diagnosing early-stage bone disease.

Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.

Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Here, we present the second report on a heterozygous novel nonsense FZD2 mutation in OMOD2 or Robinow syndrome-like phenotype. The proband was a 16-year-old boy, who has been followed from infancy to adolescence. He presented with rhizomelic short stature with elbow restriction, mild facial dysmorphism (depressed broad bridge, short nose, anteverted nostrils, long philtrum, and low-set ears), and genital hypoplasia. Radiological examination in infancy showed short, broad humeri with relatively narrow distal ends, mildly broad femora, thick proximal ulnae with hypoplastic, dislocated proximal radii, and short first metacarpals. The abnormal skeletal pattern was persistent in adolescence; however, the humeri and femora became less undermodeled, while the humeri and radii became mildly bowed. Molecular analysis identified a de novo, heterozygous, nonsense mutation (c.1640C>A, p.S547*) in FZD2. The affected codon was next to the previously reported mutation (p.Trp548*). The results indicate that OMOD2 or Robinow syndome-like phenotype can be caused by a heterozygous nonsense FZD2 mutation impairing Wnt signaling. Further molecular studies will permit better clarification of the phenotypic spectrum in patients with OMOD2.

Initial Experience With Percutaneous IM Rodding of the Humeri in Children With Osteogenesis Imperfecta.

BACKGROUND: To report a single-center surgical experience treating humeral deformity and fractures in children with osteogenesis imperfecta (OI) using the Fassier-Duval (FD) intramedullary elongating rods. METHODS: A retrospective review was conducted between December 2005 and July 2013 of all OI patients who underwent FD rodding with a minimum of 1-year follow-up. All patients were also being concurrently treated with bisphosphonates. RESULTS: Eighteen patients underwent internal fixation on a total of 35 humeri: 7 males and 11 females with an average age of 49 months. Thirty-five procedures were performed using FD rodding, with 5 utilizing only the male portion. Thirty procedures were primary FD implantation and 5 were revisions. Twelve patients had type III OI and 6 patients type IV OI. Indications for surgery included recurrent fracture, severe bowing deformity, and pain. Osteotomy methods included closed osteoclasis, percutaneous, or open osteotomies. Two patients required transfusions during their hospital stay. At our determined endpoint, 23 humeri (65.7%) had acceptable results with a mean follow-up time of 43 months (SD=27) with no revision. The remaining 12 humeri (34.3%) necessitated revision with a mean time to revision of 35 months (SD=29). Reasons for revision included: migration resulting in pain and functional difficulty (8.6%), migration with bowing (8.6%), and hardware failure secondary to trauma (8.6%). In addition, 2 revisions were required for nonunion (5.7%) and 1 for malunion (2.9%). To our knowledge, all other osteotomies performed during surgery resulted in bony union. CONCLUSIONS: The use of the FD system for correction of humeral deformity demonstrates a reasonable option to improve comfort and function in children with recurrent fractures and deformity secondary to OI. The FD system allows for decreased revision rates and less morbid instrumentation. LEVEL OF EVIDENCE: Level IV-retrospective case series.

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Mesomelic and rhizo-mesomelic dysplasias are a group of disorders characterized by abnormal shortening of the limbs. One of the most common causes of mesomelic shortening is the loss of the transcription factor SHOX. In this clinical report, we present a patient who in addition to mesomelic shortening has severe rhizomelic shortening and developmental delay. Karyotyping revealed a recombinant X chromosome in which the region distal to Xp22.33 (where SHOX is found) was replaced with material from Xq28. Included in the region distal to Xq28 is the gene MECP2 and this patient presents with features of MECP2 duplication syndrome. We find that this patient has skeletal features not typical with the loss of SHOX that are likely explained by the rearrangement of the X chromosome. Further delineation of this rearrangement may allow for the identification of additional genetic mechanisms critical for the development of the limbs.

Fishtail deformity of the distal humerus: association with osteochondritis dissecans of the capitellum.

BACKGROUND: Fishtail deformity is a rare deformity of the humerus exhibiting concavity of the lateral trochlea, resulting in ulnotrochlear joint derangement. We wanted to share our experience that osteochondritis dissecans of the capitellum is a common associated complication. OBJECTIVE: To summarize imaging of fishtail deformity in children centered on complications of the radiocapitellar joint. MATERIALS AND METHODS: From the radiology information system, we identified all patients <18 years with the diagnosis of fishtail deformity. We included only patients with V-shaped deformity of the distal humerus due to concavity at the lateral trochlea (fishtail deformity). Each patient's initial injury, most recent radiograph and available MRI were evaluated for radiocapitellar joint derangement. RESULTS: Seven patients (4 males) with a mean age of 12.9 years (range: 9.7 to 14.4 years) were identified. Radiocapitellar joint abnormalities were identified in six patients including osteoarthritis (n=5), flattened and sclerotic capitellum (n=4), osteochondritis dissecans (2 associated with loose body, n=4) and radial head subluxation (n=2). In 4 patients, MRI detected changes of osteoarthritis (n=4), osteochondritis dissecans (n=2) and loose body (n=1) not identified on radiography. Two patients with osteochondritis dissecans underwent surgery and one patient has planned surgery. CONCLUSION: Radiocapitellar joint abnormalities (particularly, capitellar osteochondritis dissecans) are common in patients with fishtail deformities. MRI should be performed in these patients since some abnormalities, possibly requiring surgery, are not detected on elbow radiographs.