Bone Development and Disease in Infants (Volume II)

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Orthopedics".

Deadline for manuscript submissions: closed (25 June 2023) | Viewed by 13027

Special Issue Editor


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Guest Editor
Department of General Surgery and Medical Surgical Specialties, University of Catania, 95123 Catania, Italy
Interests: paediatric orthopaedics; hip; arthroplasty; trauma; paediatric trauma; knee
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Special Issue Information

Dear Colleagues,

I cordially invite you to contribute to a Special Edition of Children, dedicated to bone development and diseases in infants.

Children’s bone growth is continuous, and remodeling is always extensive. Growth proceeds from a vulnerable part of the bone, the growth plate. In remodeling, old bone tissue is gradually replaced by new tissue. Many bone disorders arise from the changes that occur in a growing child’s musculoskeletal system, and these disorders can positively or negatively impact bone development. Other bone disorders may be inherited or occur in childhood for unknown reasons.

Bone disorders in children can result from factors that affect people of all ages, including injury, infection (osteomyelitis), cancer, and metabolic diseases. Causes of bone disorders can involve the gradual misalignment of bones and stress on growth plates during growth. Congenital deformities such as clubfoot or developmental dysplasia of the hip can lead to important alterations of bone development, causing severe dysfunction. Certain rare connective tissue disorders can also affect the bones, such as Marfan syndrome, osteogenesis imperfecta, and osteochondrodysplasias.

Many specialists are involved in the management of bone development disorders in children and adolescents, such as neurosurgeons, plastic surgeons, general surgeons, ORL surgeons, maxillofacial surgeons, orthopedics, radiologists, and pediatric intensive care physicians.

The aim of this Special Issue is to present the latest research on the etiology, physiopathology, diagnosis and screening, management, and rehabilitation related to bone development and disease in infants, focusing on congenital, developmental, post-traumatic, and post-infective disorders.

Prof. Vito Pavone
Guest Editor


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Keywords

  • congenital disease
  • developmental bone affection
  • lower limb deformity
  • foot
  • hip pathology
  • hand and wrist
  • knee
  • arthritis

Published Papers (7 papers)

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13 pages, 1274 KiB  
Article
Idiopathic Slipped Capital Femoral Epiphysis: Demographic Differences and Similarities between Stable, Unstable, and Valgus Types
by Randall T. Loder, Zachary Gunderson and Seungyup Sun
Children 2023, 10(9), 1557; https://doi.org/10.3390/children10091557 - 15 Sep 2023
Viewed by 692
Abstract
Idiopathic slipped capital femoral epiphysis (SCFE) is a known disorder in pre/adolescent children with vague hip/knee pain. We wished to study the demographic differences between stable varus, unstable varus, and valgus idiopathic SCFEs using a retrospective review over a 10-year period of SCFE [...] Read more.
Idiopathic slipped capital femoral epiphysis (SCFE) is a known disorder in pre/adolescent children with vague hip/knee pain. We wished to study the demographic differences between stable varus, unstable varus, and valgus idiopathic SCFEs using a retrospective review over a 10-year period of SCFE children seen at a tertiary children’s hospital. Standard demographic data was collected, and radiographs were measured to determine the Southwick angle and status of the tri-radiate cartilage. There were 190 patients; 138 had stable varus SCFEs, 45 unstable varus SCFEs, and 7 valgus SCFEs. All unstable SCFEs were varus, and all valgus SCFEs were stable. There were significant differences between the three groups by age at diagnosis, sex, race, SCFE severity, weight percentile, and duration of symptoms. The average age at diagnosis was 11.0 ± 1.2, 11.8 ± 1.8, and 12.3 ± 1.7 years for the valgus, unstable varus, and stable varus groups (p = 0.019), and similarly, SCFE severity was 25° ± 15°, 48° ± 18°, and 35° ± 19° (p = 0.0002) for the three same groups. Patients with valgus SCFEs were mostly female (86%) compared to the stable varus (39.9%) and unstable (47%) groups (p = 0.05) and mostly non-White (86%) (0.011). The duration of symptoms was 4.1 ± 4.1, 2.3 ± 5.0, and 4.5 ± 5.0 months for the valgus, unstable varus, and stable varus groups (p = 0.00005). These three types of idiopathic SCFEs demonstrated differences by age at diagnosis, sex, race, weight percentile, and duration of symptoms. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
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12 pages, 9730 KiB  
Article
Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives
by Ali Al Kaissi, Sergey Ryabykh, Farid Ben Chehida, Hamza Al Kaissi, Susanne Gerit Kircher, Franz Grill and Alexander Guben
Children 2023, 10(7), 1240; https://doi.org/10.3390/children10071240 - 18 Jul 2023
Viewed by 1054
Abstract
Background: Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, [...] Read more.
Background: Omitting the early closure of the cranial sutures in newly born children is not an uncommon practice. We describe the natural history of several unrelated children and adults from two unrelated families. These children were born with variable clinical manifestations: craniofacial asymmetry, ocular proptosis, floppiness, and progressive deceleration in cognitive development. None of these children underwent a cranial sutures assessment. False diagnoses of positional plagiocephaly, neonatal thyrotoxicosis, congenital muscular atrophy, and hydrocephalus were given to the parents. This sort of malpractice was the reason behind a sequence of devastating pathological events that occurred in the lifetime of these children and adults. Material and Methods: This was a multigenerational study of two unrelated families. In total, we studied three children (aged 7–19 years) and three adults (aged 40–52 years) from two families. The children from the first family were referred to our departments because of pre-pubertal scoliosis, kyphoscoliosis, and early-onset osteoarthritis. Reading the clinical histories of these children signified apparent clinical misconceptions. For instance, craniofacial asymmetry was misinterpreted as positional plagiocephaly and treated by means of helmet molding therapy. Ocular proptosis was given the false diagnosis of neonatal thyrotoxicosis. Floppiness (hypotonia) was misdiagnosed as congenital muscular dystrophy. The index case from the second family showed progressive deceleration in his cognitive development, associated with signs of increased intracranial pressure. The only diagnosis was Dandy–Walker malformation. We documented every patient in accordance with the clinical and radiological phenotypic characterizations. The genotype characterization followed accordingly. Results: All patients in family (I) manifested a phenotype consistent to a certain extent with the clinical phenotype of Shprintzen–Goldberg syndrome (SGS), though the intensity of spine deformities was greater than has been described in the literature. The second family showed a constellation of Marfanoid habitus, craniosynostosis, increased intracranial pressure, hydrocephalus, Dandy–Walker malformation, seizures, and intellectual disability. The overall clinical phenotype was consistent but not fully diagnostic of craniosynostosis–Dandy–Walker-malformation hydrocephalus syndrome. The early closure of the sutures was totally different from one patient to another, including the premature closure of the metopic, coronal, squamosal, and sagittal sutures. One patient from family (II) underwent the implementation of a shunt system at the age of 3 years, unfortunately passing over the pre-existing craniosynostosis. In addition to skeletal deformities, a history of seizures and severe intellectual disability was recorded. The proband underwent chromosomal karyotyping, the FISH test, and whole-exome sequencing. Conclusion: The purpose of this study was fivefold. Firstly, to gain a meticulous understanding in order to differentiate between positional plagiocephaly, hypotonia, and congenital exophthalmos and their connections to abnormal craniofacial contours was and still is our first and foremost concern. Secondly, we aimed to characterize craniosynostosis, seizures, intellectual disabilities, and hydrocephalus associated with Marfanoid habitus, which were clearly demonstrated in our patients. Thirdly, we aimed to address the imperative for interpretations of clinical and radiological phenotypes and relate these tools to etiological understanding, which is an essential basis for diagnosis in the majority of long-term pediatric admissions. Fourthly, we aimed to assess the impacts of the missed early closure by the pediatricians and pediatric neurologists, which added a heavy pathological burden on these patients and their families. Fifthly, we aimed to identify whether early and diligent recognition can assist in cranial vault remodeling via surgical intervention to halt premature cranial suture fusions and can possibly alter the devastating course and the complications of the synostosed sutures. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
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10 pages, 277 KiB  
Article
Is There an Association between BMI, Height, and Gender and Long-Bone Fractures during Childhood and Adolescence? A Large Cross-Sectional Population Study of 911,206 Subjects
by Raphael Lotan, Ran Thein, Barak Gordon, Shay Tenenbaum, Estela Derazne, Dorit Tzur, Arnon Afek and Oded Hershkovich
Children 2023, 10(6), 984; https://doi.org/10.3390/children10060984 - 31 May 2023
Viewed by 830
Abstract
Introduction: Traumatic long-bone fractures (TLFs) among children and adolescents are relatively common, with morbidity and economic consequences. Obesity has become a significant global concern. Studies have found an association between TLFs and BMI in the past but not in a large cross-sectional population [...] Read more.
Introduction: Traumatic long-bone fractures (TLFs) among children and adolescents are relatively common, with morbidity and economic consequences. Obesity has become a significant global concern. Studies have found an association between TLFs and BMI in the past but not in a large cross-sectional population study. Our study objective was to measure the incidence of TLFs in the 17-year-old general population and evaluate its association with BMI, body height, and gender. Methods: Data from a medical database containing all 17-year-old candidates’ records before recruitment into mandatory military service were retrieved as BMI, height, gender, and history of TLFs. Logistic regression models assessed the association between BMI and height to TLFs. Results: The records of 911,206 subjects (515,339 males) were reviewed. In total, 9.65% had a history of TLFs (12.25% and 6.25% for males/females, respectively). Higher BMI was associated with TLF, with a linear trend in the odds ratio (OR) for having TLFs. The strongest association was found between obese females and TLFs (OR = 1.364, p < 0.0001). Height was an independent factor positively associated with TLFs. The OR for a TLF in the highest height quintile was 1.238 (p < 0.001) for males and 1.411 (p < 0.001) for females compared to the lowest quintile. Although TLFs were more common in males, the OR for TLFs was more prominent in females. Conclusions: There is an association between BMI, body height, and TLFs in healthy adolescents. TLFs are more common in males, but the strongest association between overweight and obesity is evident in females. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
10 pages, 2308 KiB  
Article
Parathyroid Hormone-Related Peptide (PTHrP): Evaluation of Pediatric, Covariate-Stratified Reference Intervals
by Vincenzo Brescia, Antonietta Fontana, Roberto Lovero, Carmela Capobianco, Stella Vita Marsico, Tiziana De Chirico, Carla Pinto, Elisa Mascolo, Angela Pia Cazzolla, Maria Felicia Faienza and Francesca Di Serio
Children 2022, 9(6), 896; https://doi.org/10.3390/children9060896 - 15 Jun 2022
Cited by 2 | Viewed by 1910
Abstract
Parathyroid hormone-related peptide (PTHrP) is expressed at a wide range of sites in the body and performs different functions including vasodilation, relaxation of smooth muscle cells, and regulation of bone development. PTHrP also mediates hypercalcemia related to neoplastic diseases. However, reference ranges specific [...] Read more.
Parathyroid hormone-related peptide (PTHrP) is expressed at a wide range of sites in the body and performs different functions including vasodilation, relaxation of smooth muscle cells, and regulation of bone development. PTHrP also mediates hypercalcemia related to neoplastic diseases. However, reference ranges specific method and age were not evaluated. We establish PTHrP reference ranges in apparently healthy, normocalcemic, normophosphatemic pediatric individuals. In this observational prospective, study we measured PTHrP in serum from 178 samples (55.06% male 44.94% female) from apparently healthy pediatric subjects [median age 10 years (range 1–18)] subunit ELISA method The statistical analysis performed provided for the calculation of the 95% reference interval, right-sided, with a non-parametric percentile method (CLSI C28-A3). Upper reference limits (URL) for PTHrP was 2.89 ng/mL (2.60 to 3.18; 90% CI). No significant differences were found between the median PTHrP concentrations in males vs females and in the age range categories selected. Comprehensive normal values for PTHrP are indispensable to the assessment of calcium phosphorus dysfunction in children. Severe hypercalcemia is a rare, but clinically significant condition, in infancy and childhood. PTHrP values higher than the reference value may help to distinguish the hypercalcemic product of a malignancy, paraneoplastic syndromes mediated by PTHrP, from other causes. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
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9 pages, 803 KiB  
Article
Does a Graf Type-I Hip Justify the Discontinuation of Pavlik Harness Treatment in Patients with Developmental Dislocation of the Hip?
by Yiqiang Li, Federico Canavese, Yanhan Liu, Jianping Wu, Jingchun Li, Zhe Yuan, Qinghe Zhou, Yuanzhong Liu, Weidong Chen and Hongwen Xu
Children 2022, 9(5), 752; https://doi.org/10.3390/children9050752 - 20 May 2022
Cited by 1 | Viewed by 2711
Abstract
Background: To analyze the clinical data of patients aged < 6 months with developmental dislocation of the hip (DDH) treated with Pavlik Harness (PH) in order to identify the best time to terminate PH treatment. Method: Fifty-four patients (47 females, 7 males; 63 [...] Read more.
Background: To analyze the clinical data of patients aged < 6 months with developmental dislocation of the hip (DDH) treated with Pavlik Harness (PH) in order to identify the best time to terminate PH treatment. Method: Fifty-four patients (47 females, 7 males; 63 hips) met the inclusion criteria and were included in the study; there were 33 (61.1%) left, 12 (22.2%) right and 9 (16.7%) bilateral DDH. The mean age at diagnosis was 11.8 ± 5.9 weeks (range, 1.4–25.5). All patients underwent fulltime PH treatment for about three months. At completion of PH treatment, patients were then divided into Group A, including patients with clinically stable hip joint and Graf type-I hip on ultrasound (US), and Group B, including patients with clinically stable hip joint and well-reduced hip on anterior-posterior (AP) radiographs without acetabular dysplasia. Six months after completion of PH treatment, the presence/absence of residual acetabular dysplasia (RAD) was evaluated on AP pelvis radiographs. The t-test and chi-square test were used to compare the differences in age, gender, side, Graf classification and RAD rate between the two groups of patients. Results: At completion of PH treatment, 45 hips were in Group A and 18 in Group B. There were no significant differences in age, gender, side, preoperative alpha angle and Graf classification between the two groups. Six months after discontinuation of PH, the AI in Group A (27.1° ± 6.8°) was significantly higher than that in Group B (21.9° ± 3.5°; p = 0.001); moreover 23 hips (51.1%) in Group A developed RAD compared to one hip in Group B (5.6%; p = 0.001). Among Group A patients, those with RAD were significantly older (13.7 ± 4.9 weeks) than those with normal hips (7.6 ± 3.8 weeks; p < 0.001); the incidence of RAD was significantly lower in patients with Graf type-II D hips (22.2%) than in patients with Graf type-III (70%) and type-IV hips (71.4%; p = 0.006). However, logistic regression analysis identified age as the only risk factor for RAD. All 24 hips with RAD (24/63, 38.1%) were treated with abduction braces. At final follow-up, AI in Group A (20.5° ± 3.3°) was not significantly different from that in Group B (21.9° ± 3.3°; p = 0.132). At the last follow-up visit, five hips (11.1%) in Group A still had RAD, compared to none in Group B (p = 0.31). Conclusions: In patients with DDH treated by PH, Graf type-I on US is not an absolute timing to terminate PH treatment. In addition, patients ≥ 13 weeks had a high risk of RAD despite PH treatment as 51.1% of infants developed RAD during follow up. Follow-up radiographs should be requested in all patients achieving Graf type-I hips at completion of PH treatment. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
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11 pages, 1405 KiB  
Systematic Review
Diagnosis of Slipped Capital Femoral Epiphysis: How to Stay out of Trouble?
by Vito Pavone, Gianluca Testa, Paola Torrisi, Kathryn Louise McCracken, Alessia Caldaci, Andrea Vescio and Marco Sapienza
Children 2023, 10(5), 778; https://doi.org/10.3390/children10050778 - 25 Apr 2023
Viewed by 1567
Abstract
Slipped capital femoral epiphysis (SCFE) is the most common hip disorder affecting children and adolescents aged between 9 and 16 years, affecting approximately 10 per 100,000 children per year. The diagnosis of SCFE is often delayed, leading to an increased risk of complications. [...] Read more.
Slipped capital femoral epiphysis (SCFE) is the most common hip disorder affecting children and adolescents aged between 9 and 16 years, affecting approximately 10 per 100,000 children per year. The diagnosis of SCFE is often delayed, leading to an increased risk of complications. This study aims to provide the latest evidence concerning the causes of diagnostic delay and risk factors for SCFE and to educate general practitioners and paediatricians to help reduce delays in diagnosis and provide earlier therapeutic intervention. A literature search was conducted in the ScienceDirect and PubMed databases according to the PRISMA statement. Suitable studies for this systematic review included 22 articles discussing the aetiology of SCFE, risk factors, and causes of late diagnosis. Causes of delayed diagnosis include underestimation by patients, initial diagnostic approach by a non-orthopaedic professional, inadequate imaging, failure to recognize morphological changes, and variation in symptomatic presentation. The underlying risk factors for SCFE are likely part of a multifactorial process which involves anatomical variations and the metabolism of leptin, growth hormone, insulin, and other metabolic parameters. This review highlights the importance of early recognition and diagnosis of SCFE and proposes an algorithm for physicians to approach children who may have this condition. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
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5 pages, 616 KiB  
Case Report
Bilateral Congenital Knee Dislocation in Colombia: Case Report and Literature Review
by Jefferson Augusto Salguero-Sánchez, Santiago Andrés Sánchez-Duque, Ivan David Lozada-Martínez, Yamil Liscano and Jhony Alejandro Díaz-Vallejo
Children 2023, 10(1), 20; https://doi.org/10.3390/children10010020 - 22 Dec 2022
Cited by 1 | Viewed by 3246
Abstract
Congenital knee dislocation (CKD) is a rare disease with an estimated incidence of 1 per 100,000 live births, characterized by a rare musculoskeletal malformation in genu recurvatum deformity present at birth, affecting one or both lower limbs. The diagnosis may be suspected during [...] Read more.
Congenital knee dislocation (CKD) is a rare disease with an estimated incidence of 1 per 100,000 live births, characterized by a rare musculoskeletal malformation in genu recurvatum deformity present at birth, affecting one or both lower limbs. The diagnosis may be suspected during ultrasound when observing that the situation of the extremities is not correct, and is confirmed by physical examination at birth, with plain radiography being helpful to establish the degree of severity. At present there are controversies regarding treatment and there is no definitive protocol. We present a new case of CKD, observed in the city of Manizales, diagnosed immediately after birth. Full article
(This article belongs to the Special Issue Bone Development and Disease in Infants (Volume II))
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