Skeletal deformities and meristic trait variations are common in the intertidal fish Bathygobius cocosensis (Perciformes-Gobiidae).

Extreme environmental conditions, such as temperature, can lead to meristic trait variation and skeletal deformities, which may have major impacts on individual fitness. As intertidal ecosystems experience rapid temperature and physicochemical fluctuations, intertidal fish living and reproducing in these environmental conditions may have phenotypes influenced by such variable environments. The impact of intertidal variability on fish development, however, has not been previously investigated. Skeletal deformities and meristic traits were assessed for Bathygobius cocosensis, a common intertidal fish living across the Indo-Pacific region, using a clearing and staining method on 72 individuals. Over 87% of individuals presented meristic variation and over 70% exhibited at least one type of skeletal deformity, mostly recorded in the caudal fin area. The unexpected prevalence of skeletal deformities among this intertidal fish population suggests that such deformities may be suitable markers to evaluate an individual's stress exposure during development and the subsequent fitness effects.

Description of common musculoskeletal findings in Williams Syndrome and implications for therapies.

Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities. We end by providing perspective, particularly from the vantage point of a physical therapist, on therapeutic interventions to address the most common MSK and related features seen in WS. Clin. Anat. 29:578-589, 2016. © 2016 Wiley Periodicals, Inc.

Prader-Willi Syndrome: A spectrum of anatomical and clinical features.

Prader-Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590-605, 2016. © 2016 Wiley Periodicals, Inc.

Angelman syndrome: A review highlighting musculoskeletal and anatomical aberrations.

Angelman's syndrome (AS) is a genetic neurodevelopment disorder. The cause is a known abnormality involving the maternal inherited ubiquitin-protein ligase (UBE3A) gene. Clinical characteristics universal to the disorder are well documented in the literature and include developmental delay, seizures, ataxia, altered tone, severely impaired speech and intellect, as well as an overall happy demeanor, frequent bouts of laughter, and hypermotoric behavior. Associated with this disorder are several musculoskeletal aberrations. To date, a review of case studies reporting on these musculoskeletal changes has not been carried out. Thus, the purpose of this paper was to provide an overview of the musculoskeletal changes present in individuals with AS. In our review of 21 case reports from 1965-2013, the most consistently reported anatomical changes were of the craniofacial region. These include microcephaly, brachycephaly, a palpable occipital groove, prognathism, and wide spaced teeth. Other musculoskeletal abnormalities less frequently reported in the literature include scoliosis, excessive lumbar lordosis, and pes planus. Given that the majority of the case reports reviewed was of young children, the possibility of underreporting musculoskeletal changes which may manifest in the later years of life may be present. Early diagnosis and interventions to minimize secondary complications are crucial to maintain quality of life. An overall multidisciplinary approach is emphasized to maximize developmental potential for these individuals. Future prospective studies that follow patients into adulthood are needed to better understand the prevalence and development of secondary musculoskeletal changes, which in turn can inform intervention techniques and preventative measures. Clin. Anat. 29:561-567, 2016. © 2015 Wiley Periodicals, Inc.

Complexity of occupational exposures for home health-care workers: nurses vs. home health aides.

AIM: To identify occupational exposures for home health-care nurses and aides. BACKGROUND: Home health-care workers' occupational injury rates in the USA are higher than the national average, yet research on causative exposures and hazards is limited. METHODS: Participants were interviewed about annual frequency of occupational exposures and hazards. Exposure and hazard means were compared between home health-care nurses and aides using a Wilcoxon two-sample test. RESULTS: A majority of the sample was over 40 years old and obese, potentially increasing injury risks. Home health-care nurses performed more clinical tasks, increasing exposure to blood-borne pathogens. Home health-care aides performed more physical tasks with risk for occupational musculoskeletal injuries. They also dispensed oral medications and anti-cancer medications, and were exposed to drug residue at a frequency comparable to home health-care nurses. Both groups were exposed to occupational second-hand smoke. CONCLUSIONS: Establishing employee safety-related policies, promoting healthy lifestyle among staff, and making engineered tools readily available to staff can assist in decreasing exposures and hazards. IMPLICATIONS FOR NURSING MANAGEMENT: Implications for nursing management include implementation of health-promotion programmes, strategies to reduce exposure to second-hand smoke, ensuring access to and education on assistive and safety devices, and education for all staff on protection against drug residue.

Orthopedic manifestations and implications for individuals with Costello syndrome.

Costello syndrome is a rare genetic condition caused by heterozygous alterations in HRAS and characterized by multi-system abnormalities. Individuals with Costello syndrome usually present with severe feeding difficulties in infancy, short stature, coarse facial features, increased tumor risks, cardiac and neurological complications, intellectual disability and orthopedic complications. This study further defines the orthopedic manifestations affecting individuals with Costello syndrome. We studied 43 participants and performed medical records review, clinical examinations and orthopedic inquiry forms. In 23 participants, hip and or spinal imaging assessments were completed. Serial radiographs were analyzed when available. A total of 25 orthopedic manifestations were identified. Ten manifestations were seen in the majority of the participants: hypotonia (87%), ligamentous laxity (85%), scoliosis (63%), kyphosis (58%), characteristic hand deformities (85%), ulnar deviation of the wrist (63%), elbow (55%) and shoulder contractures (65%), tight Achilles tendon (73%), and pes planus (53%). Other characteristics of special note were hip dysplasia (45%), foot deformities requiring surgical intervention (38%) and osteopenia/osteoporosis (47%). We also studied the development of the hips and spine. Uni- or bilateral hip dysplasia was congenital in some, while it developed throughout childhood in others. Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis). Based on these findings, we recommend routine referral to an orthopedic surgeon as well as instituting screening protocols for hips and spine for individuals with Costello syndrome.

Chondro-manubrial deformity and bifid rib, rare variations seen in pectus carinatum: a radiological finding.

Pectus carinatum or protrusion deformity of chest wall is less frequently occurring anterior chest wall deformity when compared to pectus excavatum. It may be classified as type 1 or chondro-gladiolar and type 2 or chondro-manubrial deformity. Other variations seen are symmetrical and asymmetrical pectus carinatum. Here we present two unique case reports, one with chondro-manubrial deformity (Currarino-Silverman syndrome) and other with asymmetrical pectus carinatum having bifid rib which are some of the rare variations seen in pectus carinatum found during Computerized tomographic examination. Currarino-Silverman syndrome is a type 2 pectus carinatum, a rare deformity with chondro-manubrial involvement and usually associated congenital heart diseases. Early fusion of sternal plates is one of the known theories in producing this deformity. On the other hand, asymmetrical pectus deformity are usually seen due to imbalance or abnormality in growth plates of costal cartilages leading to forked rib or bifid rib, which are accidently seen on radiological examination. To conclude, our reports would help in differential diagnosis from frequently occurring conditions affecting chest like chondro-gladiolar deformity, pectus excavatum, chest wall tumours, rib fractures and intra thoracic ribs.

Prevalence and characteristics of abnormal head posture in children with Down syndrome: a 20-year retrospective, descriptive review.

PURPOSE: To characterize the abnormal head posture (AHP) in children with Down syndrome (DS). The study had 3 aims: to estimate the prevalence of AHP, to describe the distribution of different causes for AHP, and to evaluate the long-term outcomes of AHP in children with DS evaluated at the University of Iowa Hospitals and Clinics between 1989 and 2009. DESIGN: Retrospective chart review. PARTICIPANTS: Two hundred fifty-nine patient records. METHODS: The study data were analyzed using chi-square tests (the Fisher exact test when appropriate) to describe the relationship between the outcome of interest and each study covariate. A predictive logistic regression model for AHP was constructed including all the significant covariates. MAIN OUTCOME MEASURES: Abnormal head posture. RESULTS: Over the study period, 259 records of patients with DS were identified. Of these, 64 (24.7%) patients had AHP. The most frequent cause of AHP was incomitant strabismus in 17 (26.6%) of 64 patients. The second most frequent cause of AHP was nystagmus, in 14 (21.8%) of 64 patients. For a substantial number of patients with AHP, the cause could not be determined. They represented 12 (18.8%) of all the patients with AHP in this study and 12 (4.6%) of all patients with DS examined. When compared with patients with AHP from a determined cause, this subgroup has a statistically significantly (P = 0.027, Fisher exact test) higher percentage of atlantoaxial instability. In the study population, 9 (14.1%) of 64 patients with AHP had more than 1 cause for AHP. Refractive errors, ptosis, unilateral hearing loss, and neck and spine musculoskeletal abnormalities were responsible for AHP in a small percentage of patients. Of all the patients with AHP, 23 (35.9%) improved their head posture with treatment (glasses or surgery). An additional 6 (9.4%) patients improved their posture spontaneously, over time and without treatment. CONCLUSIONS: The prevalence of AHP in the children with DS evaluated was 24.7%. From this analysis, having strabismus of any kind and particularly incomitant strabismus, nystagmus, or both is highly correlated with the development of an AHP. Almost 19% of DS patients with AHP had no definitive cause that could be determined.

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata and malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, and cognitive disabilities. De novo germline mutations in the proto-oncogene HRAS cause Costello syndrome. Most mutations affect the glycine residues in position 12 or 13, and more than 80% of patients share p.G12S. To test the hypothesis that subtle genotype-phenotype differences exist, we report the first cohort comparison between 12 Costello syndrome individuals with p.G13C and individuals with p.G12S. The individuals with p.G13C had many typical findings including polyhydramnios, failure-to-thrive, HCM, macrocephaly with posterior fossa crowding, and developmental delay. Subjectively, their facial features were less coarse. Statistically significant differences included the absence of multifocal atrial tachycardia (P-value = 0.033), ulnar deviation of the wrist (P < 0.001) and papillomata (P = 0.003), and fewer neurosurgical procedures (P = 0.024). Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P < 0.001). The noteworthy absence of malignant tumors did not reach statistical significance. Novel ectodermal findings were noted in individuals with p.G13C, including loose anagen hair resulting in easily pluckable hair with a matted appearance, different from the tight curls typical for most Costello syndrome individuals. Unusually long eye lashes requiring trimming are a novel finding we termed dolichocilia. These distinctive ectodermal findings suggest a cell type specific effect of this particular mutation. Additional patients are needed to validate these findings.

Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.

Objective: To present a rare clinical case of a patient with Tatton-Brown-Rahman syndrome and the outcome of tall stature management with bilateral epiphysiodesis surgery at the distal femur and proximal ends of tibia and fibula. Study Design: Clinical case report. Results: This is a 20-year-old female with a history of proportional tall stature, developmental psychomotor and language delay with autism spectrum behavior and distinctive facial features. At 12 years and 2 months of age she was in early puberty and 172.5 cm tall (+ 2.8 SDS) and growing approximately 2 SDS above midparental target height of 173 cm (+ 0.9 SDS). A bone age assessment predicted an adult height of 187.1 cm (+3.4 SDS). To prevent extreme tall stature, bilateral epiphysiodesis surgery was performed at the distal femur and proximal ends of tibia and fibula at the age of 12 years and 9 months. After the surgery her height increased by 12.6 cm to 187.4 cm of which approximately 10.9 cm occurred in the spine whereas leg length increased by only 1.7 cm resulting in a modest increase of sitting height index from 50% (-1 SDS) to 53% (+ 0.5 SDS). Genetic evaluation for tall stature and intellectual disability identified a de novo nonsense variant in the DNMT3A gene previously associated with Tatton-Brown-Rahman syndrome. Conclusion: Tatton-Brown-Rahman syndrome should be considered in children with extreme tall stature and intellectual disability. Percutaneous epiphysiodesis surgery to mitigate extreme tall stature may be considered.

[Posterior osteotomy and decompression for spinal deformity in patients with achondroplasia].

OBJECTIVE: to evaluate the outcome of surgical treatment for spinal deformity in patients with achondroplasia. METHODS: six consecutive cases of 3 males and 3 females were recruited. The average age at surgery was 18.5 years old with a range of 12 to 36 years old. All patients suffered thoracolumbar kyphosis and lumbar stenosis. Four patients had neurological deficits due to severe spinal deformity. Posterior osteotomy and decompression were performed in all cases. Long cassette supine radiographs were taken before and after surgery and at the final follow-up. Correction of kyphosis, neurological outcomes (JOA (Japanese Orthopedic Association) scores) and operative complications were recorded and analyzed. RESULTS: the average follow-up was 10.2 months with a range of 5 to 24 months. The average operative duration was 320 min with a mean 1300 ml of blood loss. The average number of fusion segments was 8 with a range of 5 to 10 segments. Kyphosis was corrected from 53.3° to 13.3° with a 75.0% correction rate. The average preoperative JOA score was 4.5 points and improved to 8.5 points at the final follow-up. CONCLUSION: posterior osteotomy and decompression is a preferred surgical regiment for thoracolumbar kyphosis and lumbar stenosis in patients with achondroplasia.

Spindly leg syndrome in Atelopus varius is linked to environmental calcium and phosphate availability.

Spindly leg syndrome (SLS) is a relatively common musculoskeletal abnormality associated with captive-rearing of amphibians with aquatic larvae. We conducted an experiment to investigate the role of environmental calcium and phosphate in causing SLS in tadpoles. Our 600-tadpole experiment used a fully-factorial design, rearing Atelopus varius tadpoles in water with either high (80mg/l CaCO3), medium (50mg/l CaCO3), or low calcium hardness (20mg/l CaCO3), each was combined with high (1.74 mg/l PO4) or low (0.36 mg/l PO4) phosphate levels. We found that calcium supplementation significantly improved tadpole survival from 19% to 49% and that low calcium treatments had 60% SLS that was reduced to about 15% at the medium and high calcium treatments. Phosphate supplementation significantly reduced SLS prevalence in low calcium treatments. This experimental research clearly links SLS to the calcium: phosphate homeostatic system, but we were unable to completely eliminate the issue, suggesting an interactive role of other unidentified factors.

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.

Repair of soft tissue and extensor tendon defects on the dorsum of the hand by transfer of dorsal foot flap and extensor digitorum brevis tendon in a 3-year-old child: A case report.

RATIONALE: Repair of soft tissue defects on the dorsum of the hand with accompanying tendon defects is a challenging problem in clinical practice. PATIENT CONCERNS: Here, we describe the case of a 3-year-old boy with a 1-week old soft tissue injury with infection due to a soft tissue defect on the dorsum of his right hand, and further describe its treatment. DIAGNOSIS: A diagnosis of a soft tissue defect of the dorsum with extensor tendon defects in the fore, middle, ring, and little fingers of the right hand was made. INTERVENTIONS: The defects were repaired using a dorsal foot flap combined with the extensor digitorum brevis tendon, under spinal anesthesia, and a small dose of the sedative phenobarbital (Lumina) was administered via pump injection after the surgery. OUTCOMES: The patient was followed-up for 6 months. The shape of the dorsal hand flap recovered satisfactorily and the skin color was almost normal. Protective sensation was restored and the tendon graft functioned well in vivo. Satisfactory outcomes were achieved in the flexion and extension of each finger. LESSONS: This case study provides evidence that for soft tissue defects on the dorsum of the hand with tendon defects, 1-stage transfer of a dorsal foot flap with the extensor digitorum brevis tendon can be effective for recovery of appearance and extensor function. In case of infant patients, postoperative use of low-dose sedation can effectively reduce the risk of vascular crisis, thus promoting survival of the flap graft, and ensuring the success of the operation.

Chest pain and chest wall deformity.

Chest pain and chest wall deformities are common in children. Although most children with chest pain have a benign diagnosis, some have a serious etiology for pain, so the complaint must be addressed carefully. Unfortunately, there are few prospective studies to evaluate this complaint in children. Serious causes for chest pain are rare, making it difficult to develop clear guidelines for evaluation and management. The child who appears well, has a normal physical examination, and lacks worrisome history deserves reassurance and careful follow-up rather than extensive studies. Multicenter studies are needed to better define this important symptom.

Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence.

BACKGROUND: Congenital myotonic dystrophy (CMD) is a dominantly inherited disorder manifested in childhood by muscle weakness which can be profound at birth, but which progressively improves over the first few years. Congenital myotonic dystrophy represents the severe end of the spectrum of myotonic dystrophy, which in milder cases may not be diagnosed until adulthood. The goal of the study was to identify and quantitate the musculoskeletal deformities which may significantly affect the function of children with CMD. METHODS: A retrospective chart and radiograph review was performed after Institutional Review Board approval for all cases of myotonic dystrophy from 1987 to 2004 followed at a children's specialty orthopaedic hospital. Inclusion criteria were either a conclusive testing for CMD by gene testing, electromyography, and/or muscle biopsy in the child or parent and the presence of a typical clinical picture. Skeletal manifestations were classified by body segment (upper extremity, hand, spine, hip, lower extremity, foot) and by the type of deformity. Surgical procedures and outcomes were also documented. RESULTS: Thirty children and adolescents met the inclusion criteria. The male/female ratio was 1 (15 boys and 15 girls). In 27 cases, the mother transmitted the disease, and in 2 cases, the father transmitted the disease; in one case, it was impossible to reconstitute the family history of the child who was adopted. The mean age at onset of gait was 29 months. Twenty-two (73%) out of 30 children underwent surgery for lower extremity-, foot-, or spinal-related deformities. The mean follow-up was 11.4 years (range, 3-20 years).No contractures or deformities were observed in the upper extremities. Spinal deformities affected 9 patients (30%), and 3 of these required surgery. These spinal deformities when present usually had an early onset and included thoracolumbar scoliosis as well as kyphoscoliosis. Problems at the level of the hips and knee were infrequent and included only 2 patients who had unilateral hip abduction contracture and 1 patient who had significant fixed knee flexion contracture. Congenital clubfoot occurred in 5 patients (17%) and generally responded well after posteromedial release and recurrence occurred in only one case. Developmental equinus and equinovarus exclusive of clubfoot affected 7 patients (23%), 70% of whom required surgery. Outcome after Achilles tendon lengthening was positive, and many of the children began walking soon after the Achilles lengthening, and recurrence did not occur. CONCLUSIONS: Child with CMD are at high risk for musculoskeletal deformities of the spine and lower extremities. In our experience, correction and improved function were likely after surgery. LEVEL OF EVIDENCE: Retrospective study; level IV.

Determinants and seasonality of major structural birth defects among newborns delivered at primary and referral hospital of East and West Gojjam zones, Northwest Ethiopia 2017-2018: case-control study.

OBJECTIVE: Although infant mortality because of birth defect has increased in both developed and developing countries, had not got attention like other health issues at national, regional, or local levels. Documenting the risk factors that influence the occurrence of birth defects and its seasonality will help to inform the community and to develop preventive strategies for the country. RESULTS: Factors associated with higher likelihood of a major structural birth defects included maternal age; neonates born from women living in urban; and in Dega; history of fever during pregnancy; intake of herbal medicine; and drinking alcohol. Counselling for pregnancy preparation and folic acid supplementation was found protective for the likelihood of birth defect.