Skeletal Survey Research Articles

Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia.

Kyphomelic dysplasia is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs, severely affecting femora with distinct facial features. Despite its first description nearly four decades ago, the precise molecular basis of this condition remained elusive until the recent discovery of de novo variants in the KIF5B-related kyphomelic dysplasia. We ascertained two unrelated consanguineous families with kyphomelic dysplasia. They had six affected offsprings and we performed a detailed clinical evaluation, skeletal survey, and exome sequencing in three probands. All the probands had short stature, cleft palate, and micro-retrognathia. Radiographs revealed kyphomelic femora, bowing of long bones, radial head dislocations and mild platyspondyly. We noted two novel homozygous variants in CCN2 as possible candidates that segregated with the phenotype in the families: a missense variant c.443G>A; p.(Cys148Tyr) in exon 3 and a frameshift variant, c.779_786del; p.(Pro260LeufsTer7) in exon 5. CCN2 is crucial for proliferation and differentiation of chondrocytes. Earlier studies have shown that Ccn2-deficient mice exhibit twisted limbs, short and kinked sterna, broad vertebrae, domed cranial vault, shorter mandibles, and cleft palate. We studied the impact of CCN2 knockout in zebrafish models via CRISPR-Cas9 gene editing. F0 knockouts of ccn2a in zebrafish showed altered body curvature, impaired cartilage formation in craniofacial region and either bent or missing tails. Our observations in humans and zebrafish combined with previously described skeletal phenotype of Ccn2 knock out mice, confirm that biallelic loss of function variants in CCN2 result in an autosomal recessive kyphomelic dysplasia.

Multiple myeloma: What is the most cost-effective imaging strategy for initial detection of bone lesions?

To determine the cost-effectiveness of different imaging modalities for initial detection of multiple myeloma (MM)-defining bone lesions. A Markov model from the health care system perspective for patients with MGUS was used to evaluate the incremental cost-effectiveness of five imaging techniques: skeletal survey (SS), low-dose computed tomography (LDCT), positron emission computed tomography (PETCT), and whole-body magnetic resonance imaging (WBMRI) with and without diffusion (DIFF). Model inputs, including probabilities, utilities, and costs were obtained from comprehensive literature review. Costs were estimated in 2024 U.S. dollars, effectiveness was measured in quality adjusted life years (QALYs), willingness-to-pay (WTP) threshold was set to $100,000/QALY, and timeframe of the simulation was 20years. Model analyses included Monte Carlo microsimulation and probabilistic sensitivity analysis (PSA). The most cost-effective imaging strategy was dependent on the number of patient risk factors for progression from MGUS to myeloma. At a WTP threshold of $100,000, for patients with no risk factors for progression, LDCT amassed the greatest net monetary benefit (NMB) ($1,030,913.57) while incurring the second lowest costs ($44,870.73). For patients with 1 or 2 risk factors for progression, WBMRI + DIFF amassed the greatest NMB (1 risk factor: $802,637.30, 2 risk factors: $664,430.36). WBMRI and PETCT were absolutely dominated in all cases. PSA also found that the most cost-effective strategy was dependent on the WTP threshold. Our model suggests that LDCT and WBMRI + DIFF can be the most cost-effective imaging strategies for the initial diagnosis of MM in patients, depending on the number of risk factors for progression.

Identifying Child Abuse in Patients With Femur Fractures Through Pathway Compliance: A Pilot Study.

Background Child abuse is a significant cause of morbidity and mortality in children. A thorough history and physical exam is critical to identifying abuse. Standardized screening tools as well as clinical pathways can assist with identifying patients who may have an injury secondary to abuse. There are varied recommendations for the upper age in which to routinely evaluate pediatric patients for child abuse. Objectives The primary objective of this study was to describe the outcomes of the implementation of an evidence-based clinical pathway for suspected non-accidental trauma for all pediatric patients aged five years and under presenting with a femur fracture. This pathway includes orders for imaging, labs, and consults. In addition, the characteristics of this population and the findings were described. Methods A retrospective study of patients at a single institution who met the National Trauma Data Standard registry inclusion criteria and had a femur fracture was performed. Variables analyzed included age, demographics, mechanism and location of injury, admission status and service, injury severity, hospital characteristics, and discharge status. Patients with a metabolic bone disease were excluded. Results There were 200 patients who met the inclusion criteria. Thirty-two patients had a diagnosis of confirmed or suspected child abuse. While all 32 patients had a skeletal survey performed, only 23 (71.9%) had the complete workup per the clinical pathway, and 21 (65.6%) had a diagnosis of confirmed child abuse. Conclusion Clinical pathways are established to provide the standardization of clinical assessments and interventions; however, this process relies on a single individual to make a judgment determining whether or not to implement the pathway. Children presenting to an emergency department with confirmed or suspected child abuse are a vulnerable population. A child abuse diagnosis is a clinical judgment; however, clinical pathways aid in the diagnosis in hopes to stop any further abuse. For a pathway to be successful, each step needs to be addressed.

8400 An Unusual Case of Brittle Bone Disease

Abstract Disclosure: S.M. Middleton: None. M. Mogri: None. Introduction: We present the case of a now 21-month-old F with prenatally suspected skeletal dysplasia; subsequent evaluation revealed concern for a form of brittle bone disease that has not been previously described. Clinical Case: The patient was delivered at 37.0 weeks gestational age via C-section. There had been prior prenatal concerns for a possible skeletal dysplasia. A skeletal survey done on day-of-life 2 noted generalized demineralization of her bones, shortening/bowing of the long bones, an acute right proximal ulnar fracture, and evidence of multiple discontinuous healed rib fractures. A repeat skeletal survey done at day-of-life 19 demonstrated worsening skeletal findings with a very poorly mineralized skull, shortening of the clavicles and extremities, progressive fractures in all extremities and further bowing of the limbs, progressive rib fractures with callus formation, and multiple vertebral bodies with stature loss concerning for compression fractures. Directed genetic testing for osteogenesis imperfecta was negative, so whole exome sequencing was pursued and identified variants of unknown significance in the KAT6B and WDR35 genes not previously described, noting that the patient was heterozygous for both. She was suspected to be a carrier for the WDR35 mutation as it is inherited in an autosomal recessive fashion, and parental genetic testing revealed that the patient’s father carried the same KAT6B mutation and was phenotypically normal. Mutations in these genes have been described in disorders associated with bone abnormalities (such as genitopatellar syndrome and cranioectodermal dysplasia 2), but with different clinical presentations. During the course of her care, she was also identified to have hypophosphatemia shortly after birth and concerns for phosphate wasting; she was noted to have a high fractional excretion of phosphate in the setting of low serum phosphorus despite enteral phosphorus supplementation. She additionally was found to have an elevated FGF23 level at the same time the suspected renal phosphate wasting was identified. Her total calcium has remained normal with normal PTH values; her 25-OH vitamin D has also been normal. She has subsequently been successfully managed on sodium phosphate and calcitriol supplementation, as well as regular zolendronate infusions, without recurrence of fractures, and is clinically doing well with improvements in her respiratory status and overall development. Conclusion: This patient illustrates a severe case of brittle bone disease that presently does not have a clear etiology, though could represent a novel genetic mutation that has not been described and could subsequently be identified with continued review of her genetic testing in the future. Reporting her case could be beneficial to other patients with similar skeletal disease in helping to identify an underlying cause. Presentation: 6/3/2024

12313 Parathyroid Carcinoma Presenting As Right Foot Pain And Swelling In A Young Male - A Case Report

Abstract Disclosure: F.E. Sorsona: None. L. Lopez: None. Parathyroid carcinoma is a rare cause of hyperparathyroidism that is challenging to diagnose. We report a case of parathyroid carcinoma with an unusual initial presentation of right foot pain and swelling in a young 26-year-old Filipino male. Physical examination revealed a palpable 1 x 1 cm mass with tenderness on his right foot. Initial work-up showed a persistently elevated serum ionized calcium (range: 1.7 - 2.19 mmol/L) with markedly high intact parathyroid hormone (1,890 pg/ml). A right foot x-ray revealed a lytic bone lesion on the 3rd metatarsal. Skeletal survey revealed diffuse lytic bone lesions. Comprehensive neck ultrasound showed a 4 x 1.6 x 2.5 cm complex nodule adjacent to the inferior pole of the left lobe of the thyroid gland with intralesional calcifications. A 4D CT scan showed a 3.3 x 2.2 x 2 cm hypervascular nodule inferior to the left thyroid lobe with early contrast washout, likely parathyroid in origin, and a possible brown tumor in the right fourth rib. Patient underwent parathyroidectomy with intraoperative PTH monitoring showing a marked reduction of intact PTH by 87% (235.9 pg/ml from 1,890 pg/ml), accompanied by reduction of serum ionized calcium. The histopathology reported parathyroid carcinoma highlighted by lymphovascular invasion, atypical round cells in sheets and nests, with enlarged, mildly pleomorphic, hyperchromatic nuclei and prominent nucleoli. Two months after surgery, normal serum ionized calcium was maintained with calcium supplementation with reported relief of right foot pain and swelling. The patient continues to follow up regularly for monitoring of treatment response. Presentation: 6/2/2024

ESR Essentials: imaging of suspected child abuse-practice recommendations by the European Society of Paediatric Radiology.

The goal of this paper is to provide a useful desktop reference for the imaging of suspected child abuse with clear, age-specific pathways for appropriate evidence-based imaging and follow-up. We aim to provide a road map for the imaging evaluation and follow-up of this important and vulnerable cohort of patients presenting with signs and symptoms concerning forinflicted injury. As the imaging recommendations differ for children of different ages, we provide a flowchart of the appropriate imaging pathway for infants, toddlers, and older children, which allows ease of selection of which children should undergo skeletal survey, non-contrast computed tomography (CT) brain with 3-dimensional (D) reformats, and magnetic resonance imaging (MRI) of the brain and whole spine. For ease of review, we include a table of the common intracranial and spinal patterns of injury in abusive head trauma. We summarise search patterns, areas of review, and key findings to include in the report. To exclude skeletal injury, infants and children under 2 years of age should undergo a full skeletal survey in accordance with national guidelines, with a limited follow-up skeletal survey performed 11-14 days later. For children over 2 years of age, the need for skeletal imaging should be decided on a case-by-case basis. All infants should undergo a non-contrast-enhanced CT brain with 3-D reformats. If this is normal with no abnormal neurology, then no further neuroimaging is required. If this is abnormal, then they should proceed to MRI brain and whole spine within 2-5 days. Children older than 1 year of age who have abnormal neurology and/or findings on skeletal survey that are suggestive of inflicted injury should undergo non-contrast CT brain with 3-D reformats and, depending on the findings, may also require MRI of the brain and whole spine. We hope that this will be a helpful contribution to the radiology literature, particularly for the general radiologist with low volumes of paediatrics in their practice, supporting them with managing these important cases when they arise in daily practice. KEY POINTS: The choice of initial imaging (skeletal survey and/or brain CT) depends on the age of the child in whom abuse is suspected. A follow-up skeletal survey is mandatory 11-14 days after the initial survey. If an MRI of the brain is performed, then an MRI of the whole spine should be performed concurrently.

A Study of Skeletal Survey Disparity in Pediatric Head Injury in the Emergency Department.

The objective of this study was to evaluate disparities in skeletal survey (SS) use for pediatric. head injury patients in the emergency department (ED). This was a multi-site retrospective. cohort study of children <24months with concern for head injury and injury on head CT from. 7/1/12 - 1/1/22. We determined adjusted associations between SS completion and race, ethnicity, language for care, insurance type, and income, with sub-analysis of children <6months and with complex injury. We evaluated occult fracture prevalence. Two-hundred seventy children met criteria and 88 had SS. No statistical association was found between skeletal survey completion and race or ethnicity, language for care, private insurance, median census tract income, or in sub-analyses. Two of 88 (2.3%) patients had occult fracture; both had risk factors for NAT. In conclusion, no statistical association was found between SS completion and demographics. Occult fracture was uncommon. SS use can likely be decreased in lower risk patients.

Assessing guideline adherence and child abuse evaluation in infants with fractures: a retrospective quality control study

AIMS OF THE STUDY: To standardise the assessment of infants with fractures at University Children’s Hospital Zurich, a guideline was implemented in February 2021. The aim of this study was to assess adherence to this guideline and to assess changes in management before and after guideline implementation. The primary outcome was the overall adherence rate to the guideline. Additionally, we evaluated specific omissions of guideline steps by clinicians and investigated differences in adherence for infants younger vs older than six months, as well as variations between in- and outpatient care. Secondary outcomes focused on changes in the frequency of involvement of the child protection team, skeletal survey rates and child abuse detection, comparing these rates before and after guideline implementation. METHODS: We conducted a retrospective single-centre quality control study. We included infants younger than 12 months diagnosed with fractures at the emergency department between 1 February 2021 and 31 August 2022. We excluded children with prior bone disease diagnoses and those whose parents did not consent to their children’s data being used for research. RESULTS: A total of 61 emergency department visits of infants with fractures were included in the study. The overall adherence rate to the guideline was 39%. Notably, in 68% of cases where clinicians deviated from the guideline, the primary reason was a missing consultation of the paediatrician or family doctor. Adherence levels were consistent across age groups (under and over six months), but there was a notable discrepancy between inpatient (53%) and outpatient (26%) care settings. Child protection team involvement increased to 54%, twice the rate observed before guideline implementation. CONCLUSIONS: Overall adherence to the guideline was poor, emphasising the necessity for continuous training of clinicians to raise awareness regarding the differential diagnosis of child abuse. Despite the guideline’s implementation leading to a doubled rate of child protection team involvement, there remains a need for improvement. Notably, outpatient care exhibited lower guideline adherence, signalling an area requiring focused attention.

Case Report: A male newborn with occipital horn syndrome

Occipital horn syndrome (OHS) is a rare genetic disease and copper transport disorder caused by a faulty ATP7A gene with multisystemic presentations, most originally related to musculoskeletal and connective tissue affections. In our case, a male neonate with OHS presented soon after birth with pathognomonic occipital exostosis, cutis laxa at the nape region, and widely opened skull sutures and fontanels. A skeletal survey showed occipital exostosis projecting from the line of insertion of the trapezius muscle and wide fontanels on skull X-ray films with no exostoses or deformities elsewhere. In addition to our case report being the second reported case for the condition detected early in the neonatal period, it also emphasizes the importance of investigating any sign thoroughly, as it may be an early alarming sign of a progressive disease that may affect the patient’s quality of life. In addition, it highlights the value of early diagnosis and multidisciplinary management of these patients.

Investigating the Determinants of Nonaccidental Trauma Evaluation in Pediatric Femur Fractures.

Femoral fractures in children have the highest probability for abuse after skull fractures and humeral shaft fractures. However, the reported proportion of pediatric femur fractures that result from nonaccidental trauma (NAT) varies in the literature from 2% to 60%. The purpose of this study was to determine the patient characteristics associated with a physician's decision to conduct a NAT workup and challenge universal clinical practice guidelines stating that all children younger than 3 years with a diaphyseal femur fracture be evaluated for NAT. A retrospective review was conducted on patients aged 0 to 36 months diagnosed with a femur fracture between January 1, 2004, and April 9, 2019, at our institution. NAT was defined as a diagnosis of trauma that was nonaccidental in the medical chart after a positive workup by skeletal survey, ophthalmological examination, or other appropriate referral made by the institution's child abuse and neglect team. Patients with incomplete medical records were excluded. A total of 299 patients were identified, and 22 were excluded. 71% (197/277) were screened for NAT. Patients younger than 1 year were significantly more likely to undergo a NAT workup (P = 0.009; Odds Ratio [OR], 2.3; 95% CI, 1.2 to 4.4) and receive a positive result from the NAT workup (P < 0.0005; OR, 11.3; 95% CI, 4.6 to 27.4). Additional injuries were also a significant predictor of a positive NAT workup (P < 0.001; OR, 5.3; 95% CI, 2.4 to 11.9). Patient race/ethnicity, sex, and fracture type were not markedly associated with the physician's decision to conduct a NAT workup. Infants younger than 1 year with a femur fracture and children younger than 3 years presenting with a femur fracture and another injury are at increased risk of possible NAT. While clinical practice guidelines may minimize racial bias in NAT evaluation, this study demonstrates that universal NAT workups for walking-age children in the absence of other evidence of abuse may be unnecessary. This is a Level III retrospective cohort study.

Imaging of the Pediatric Cranial Sutures in Abusive Head Trauma

Pediatric skull fractures are frequently encountered in accidental and abusive head trauma and often involve cranial sutures. However, skull fracture association with cranial sutural widening, crossing, or contacting ≥2 cranial sutures can be seen more commonly with abusive head trauma. Knowledge of cranial sutures and associated variants is helpful for an accurate diagnosis. 3D head CT is a significant aid in the identification of skull fractures contacting and crossing cranial sutures. Growing literature supports the elimination of concurrent skull radiographs (often performed as required components of follow-up skeletal surveys). Ultrashort TE/zero TE MRI is an emerging new imaging technique to consider for assessing skull fractures to aid in evaluating pediatric abusive head trauma.Learning Objective: To review skull fracture findings in abusive head trauma with attention paid to the cranial sutures (widening, crossing, or contacting ≥2 sutures). &lt;list list-type="order"&gt; &lt;list-item&gt;To recognize normal cranial sutural variants.&lt;/list-item&gt; &lt;list-item&gt;To understand the role of CT versus radiographs in assessing skull fractures.&lt;/list-item&gt; &lt;list-item&gt;To discuss ultrashort TE/zero TE MRI as an emerging technique for imaging skull fractures in abusive head trauma.&lt;/list-item&gt; &lt;/list&gt;

OTHR-24. CLINICAL COURSE OF ISOLATED PITUITARY STALK THICKENING IN PEDIATRIC PATIENTS AND RISK FACTOR FOR NEOPLASTIC ETIOLOGY: A SINGLE INSTITUTIONAL EXPERIENCE

Abstract BACKGROUND The incidence of pituitary stalk thickening (PST) has increased in recent years due to the increased utilization of diagnostic MRI of the brain. The etiology of PST includes germ cell tumors, Langerhans cell histiocytosis (LCH), and lymphocytic hypophysitis, among others. The clinical significance of PST, appropriate diagnostic workup, and clinical course for these patients is not well documented. We report our institutional experience with patients presenting with PST. METHODS After IRB approval, we reviewed lists of patients discussed in pediatric tumor boards from 2003-2023 to identify patients with PST. We excluded patients with other significant intracranial masses from our analysis. We followed the clinical course of these patients to collect applicable data. RESULTS A total of 20 patients were identified with PST, five patients were excluded due to additional MRI findings. The median age of diagnosis with PST was 14 years; 60% of cases were female. Seven patients had diabetes insipidus (DI), and five patients had other endocrinological abnormalities. Initial diagnostic workup included serum and CSF tumor markers (AFP, B-HCG), skeletal survey, CBC, and CMP. With this initial workup, no patients were diagnosed with neoplasm. All patients were followed with serial MRIs. Four patients (26.6%) displayed progression of PST, warranting biopsy. The median time from diagnosis to biopsy was seven months (range 4-26 months). Among four patients with biopsy, two had LCH, one had germinoma, and one inconclusive result. Among those diagnosed with neoplasm, 100% of them had DI. Three patients had complete resolution of PST during the follow-up period. Eight patients had stable PST during the median follow-up period of 19.5 months (Range 3-59 months). CONCLUSIONS Most isolated PST among pediatric patients remained stable during the follow-up period. The risk for neoplastic process was high among patients with increasing thickening of pituitary stalk and DI.

National myeloma patient survey shows continuing inappropriate imaging and geographical inequalities.

To evaluate the provision of imaging at diagnosis of myeloma from the service user perspective with a specific focus on how the experiences of patients align with the National Institute for Health and Care Excellence (NICE) guidelines (NG35, 2016) on first-line imaging practice for myeloma in the United Kingdom. A national survey was performed to evaluate access to imaging from the patient's perspective. Patients with myeloma who received their diagnosis between 2017 and March 2022 were invited to participate. Data were collected using an online survey from 895 patients and carers between 4 and 14 March 2022. Most patients had more than one imaging test. First-line MRI was used in 69.2% of respondents. First-line skeletal survey (SS, whole body X-rays) remained common (48.7% of respondents). 18F-fluorodexyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) was used least often (23.1% of respondents). SS was used more often in East England (57.9%) and Scotland (61.2%) than in South East England (36.3%). Despite NICE recommendations, first-line MRI was not used in a third of patients surveyed, with geographical variation in imaging practice. Patients are still undergoing multiple imaging tests at diagnosis. Healthcare professionals should continue to emphasize the superiority of MRI compared to SS to drive for improvements in care. Current recommendations on first-line imaging for myeloma are not provided consistently across the United Kingdom. There is a need to drive change and support healthcare professionals to deliver guidance-based recommendations to improve experience and outcomes for patients.

Beyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome—A Triple Sibship

BackgroundCaudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation. ResultsThis report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children's health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition. ConclusionThis case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.

Findings Associated With Nonaccidental Trauma in Children With Isolated Femoral Diaphyseal Fractures.

Pediatric patients with isolated femoral diaphyseal fractures are difficult to assess for nonaccidental trauma (NAT). The purpose of this study was to determine (1) if there are any demographic features of isolated femoral diaphyseal fractures associated with suspected NAT and (2) if there are clinical signs associated with isolated femoral diaphyseal fractures associated with suspected NAT. All patients with femoral diaphyseal fractures from January 2010 to June 2018 were reviewed. We included patients younger than 4 years old with isolated femoral diaphyseal fractures. We excluded patients 4 years old and older, polytraumas, motor vehicle collisions, and patients with altered bone biology. Diagnosis of suspected NAT was determined by review of a documented social work assessment. We recorded fracture characteristics including location along femur as well as fracture pattern and presence of associated findings on NAT workup including the presence of retinal hemorrhage, subdural hematoma, evidence of prior fracture, or cutaneous lesions. Sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of these associated findings were calculated. Totally, 144 patients met the inclusion criteria. Social work was consulted on 50 patients (35%). Suspected NAT was diagnosed in 27 patients (19%). The average age of patients with suspected NAT was 0.82 and 2.25 years in patients without NAT ( P <0.01). The rate and type of skin lesions present on exam were not different between the 2 groups. Patients with suspected NAT had no findings of retinal hemorrhage or subdural hematoma, but 5 of 27 patients (19%) had evidence of prior fracture on skeletal survey. The sensitivities of retinal hemorrhage, subdural, and skeletal survey were 0%, 0%, and 19% and the specificities of all were 100%. The NPVs were 39%, 27%, and 63%, respectively. The PPV of skeletal survey was 100%. Since there were no patients in this study with positive findings of retinal hemorrhage or subdural hematoma, the PPV for these could not be assessed. In the current study, signs of NAT such as skin lesions, retinal hemorrhage, subdural hematoma, and evidence of prior fracture on skeletal survey may not be helpful to diagnosis suspected NAT in patients with an isolated femoral diaphyseal fracture. Level III-diagnostic study.

Correlation of Orthognathic Surgical Movements to Perception of Facial Appearance in Patients With Cleft Lip and Palate.

Cephalometric scans were compared before and after surgery to assess the degree of correction. Correlations between skeletal movements and survey outcomes were determined using multivariate regression analysis. This study aims to identify relationships between subjective observer-reported improvements in esthetics and emotional appearance with specific surgical movements. Ten patients at a single tertiary institution (average age: 18.1 ± 0.8), 9 males and 1 female, underwent orthognathic repair and had comprehensive cephalometric records. Standardized anterior posterior and lateral pre and postoperative photographs of patients were included in a survey to clinicians to assess noncognitive domains on a Likert Scale (1-10). CLEFT-Q was administered to gauge patient satisfaction in categories of appearance, speech, and quality of life. Per clinicians, multiple domains increased including facial attractiveness (4.1 ± 0.7 versus 7.3 ± 0.7, P < 0.001), friendliness (4.5 ± 0.4 versus 7.3 ± 0.5, P < 0.001), confidence (4.1 ± 0.4 versus 7.1 ± 0.4, P < 0.001), and recommendation for surgery decreased (8.9 ± 0.1 versus 3.6 ± 0.5, P < 0.001). Speech distress decreased with increased SNA and convexity, whereas Psychological and Social scores decreased with an increased ANB. Functional eating and drinking scores increased with maxillary depth. Orthognathic surgery improves many noncognitive domains in patients with cleft lip and palate as assessed by both patients and clinicians on all aspects of facial attractiveness and perception. These findings demonstrate objective bases of skeletal adjustments for perceived improvements in facial appearance and emotion.

Urinalysis in Suspected Child Abuse Evaluation in the Emergency Department.

Intra-abdominal injury (IAI) is the second leading cause of mortality in abused children. It is challenging to identify in young patients due to their limited verbal skills, delayed symptoms, less muscular abdominal wall, and limited bruising. We conducted a retrospective cohort study of children aged 0 to 12 months who were evaluated in the emergency department for suspected child abuse with a skeletal survey and urinalysis between January 1, 2015, and December 31, 2017. Our primary objective was to identify the proportion of IAI cases identified by urinalysis alone (>10 RBC/HPF) and not by examination findings or other laboratory results. A secondary objective was to quantify potential delay in disposition while waiting for urinalysis results, calculated as the length of time between receiving skeletal survey and laboratory results and receiving urinalysis results. Six hundred thirteen subjects met our inclusion criteria; two subjects had hematuria, one of whom had a urinary tract infection. The other was determined to have blood from a catheterized urine specimen. One subject was found to have an IAI. We further found that urinalysis was delayed for 78% of subjects and took a median of 93 [interquartile range, 46-153] minutes longer than imaging and/or laboratories. No subjects were diagnosed with abdominal trauma based on urinalysis during evaluation in the emergency department who would not have been identified by other standard testing. In addition, patients' disposition was delayed while waiting for urinalysis.

Spectrum of skeletal dysplasia in short stature children in tertiary care hospital.

Objective: To evaluate the spectrum of skeletal dysplasia in short stature children at National Institute of Child Health (NICH), Pakistan. Study Design: Case Series study. Setting: Department of Endocrinology, NICH, Karachi, Pakistan. Period: January 2022 to November 2023. Methods: Short statured (height &lt; -2.0 SD) children of either gender aged between 1 month up to 16 years and diagnosed with skeletal dysplasia were analyzed. At the time enrollment, gender, age, anthropometric measures, antenatal history, and family history were noted. Complete skeletal survey was performed. Results: In a total of 131 short statured children with skeletal dysplasia, 77 (58.8%) were male. The mean and median age were 5.54±4.33 and 5.0 (1.5-8) years. Consanguinity was reported in 85 (64.9%) cases whereas siblings were affected among 9 (6.9%) cases. The most frequent presenting complaints and clinical features were joint pain, facial dysmorphism, movement limitations, and infections, reported by 67 (51.1%), 67 (51.1%), 65 (49.6%), and 63 (48.1%) children respectively. Mucopolysaccharidosis (29.0%), achondrodysplasia (13.7%), and osteogenesis imperfecta (10.7%) were the most common types of skeletal dysplasia. Conclusion: Mucopolysaccharidosis, achondrodysplasia, and osteogenesis imperfecta were the most frequent types of skeletal dysplasia. The most frequent presenting complaints and clinical features were joint pain, facial dysmorphism, movement limitations, and infections. The high prevalence of consanguinity and familial history emphasizes a probable genetic basis for skeletal dysplasia.

Ventriculoperitoneal shunt and bilateral herniotomies in mucopolysaccharidosis type I: A surgical challenge

ABSTRACT Mucopolysaccharidosis type I or Hurler syndrome (1 in 100,000) is a rare lysosomal storage disorder caused by a defective IDUA gene which codes for α-L-iduronidase enzyme. Enzyme deficiency results in the accumulation of dermatan and heparan sulfate which leads to characteristic facial features, skeletal abnormalities, hepatosplenomegaly, cardiac and pulmonary disease, and progressive mental retardation. A 1-year-old male child presented with chief complaints of increasing head size and bilateral large inguinoscrotal swellings for 5 months. He had a motor developmental delay with poor speech at 1 year of age. The infant weighed 10 kg with a length of 76.5 cm and large head size with head circumference of 53.5 cm (&gt;97 centiles); the anterior fontanel was wide open. Facial features revealed prominent forehead, bilateral corneal clouding, and coarse facies. Per-abdomen examination revealed hepatosplenomegaly; inguinoscrotal evaluation revealed bilateral large reducible indirect inguinal hernias. Radiographic findings suggested dysostosis multiplex. Serial cranial ultrasonography revealed progressive hydrocephalus. Noncontrast computed tomography brain confirmed communicating type of hydrocephalus with periventricular ooze. Considering the clinical history, clinical examination, and skeletal survey, findings were consistent with mucopolysaccharidoses. Urine spot test for glycosaminoglycans for mucopolysaccharidosis was positive. Enzyme analysis of alpha-L-iduronidase showed deficient levels. A molecular study revealed a homozygous mutation in the IDUA gene confirming the diagnosis of Hurler syndrome. The right ventriculoperitoneal shunt was performed after preoperative optimization. Bilateral inguinal hernia repair was contemplated after a gap of 8 weeks. On 9-month follow-up, there was a gradual reduction in ventricular hemispheric ratio, and the patient is doing well on follow-up. Surgical management of the MPS I patient is challenging, but with timely medical and surgical treatment, the prognosis is improving.

The use of the skeletal survey in suspected physical child abuse - a case report

The use of the skeletal survey in suspected physical child abuse - a case report