scholarly journals Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Katina Kartalias ◽  
Austin P. Gillies ◽  
Maria T. Peña ◽  
Andrea Estrada ◽  
Dorothy I. Bulas ◽  
...  
Keyword(s):  
Distal Femur ◽  
Skeletal Maturity ◽  
Bone Age ◽  
Skeletal Survey ◽  
Leg Length ◽  
Erect Posture ◽  
Surgical Interventions ◽  
Feeding Difficulties ◽  
Knee Contracture ◽  
The Right

Abstract Background Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and advanced bone age. To date, reports on this disorder have focused on phenotypic findings, endocrine changes, and genetic variation. We present a 14-year overview of a patient, from birth to skeletal maturity, with acroscyphodysplasia, noting the significant orthopaedic challenges and the need for a multidisciplinary team, including specialists in genetics, orthopaedics, endocrinology, and otolaryngology, to optimize long-term outcomes. Case presentation The patient presented as a newborn with dysmorphic facial features, including severe midface hypoplasia, malar flattening, nasal stenosis, and feeding difficulties. Radiologic findings were initially subtle, and a skeletal survey performed at age 7 months was initially considered normal. Genetic evaluation revealed a variant in PDE4D and subsequent pseudohypoparathyroidism. The patient presented to the department of orthopaedics, at age 2 years 9 months with a leg length discrepancy, right knee contracture, and severely crouched gait. Radiographs demonstrated cone-shaped epiphyses of the right distal femur and proximal tibia, but no evidence of growth plate changes in the left leg. The child developed early posterior epiphyseal arrest on the right side and required multiple surgical interventions to achieve neutral extension. Her left distal femur developed late posterior physeal arrest and secondary contracture without evidence of schypho deformity, which improved with anterior screw epiphysiodesis. The child required numerous orthopaedic surgical interventions to achieve full knee extension bilaterally. At age 13 years 11 months, she was an independent ambulator with erect posture. The child underwent numerous otolaryngology procedures and will require significant ongoing care. She has moderate intellectual disability. Discussion and conclusions Key challenges in the management of this case included the subtle changes on initial skeletal survey and the marked asymmetry of her deformity. While cone-shaped epiphyses are a hallmark of acrodysostosis, posterior tethering/growth arrest of the posterior distal femur has not been previously reported. Correction of the secondary knee contracture was essential to improve ambulation. Children with acroscyphodysplasia require a multidisciplinary approach, including radiology, genetics, orthopaedics, otolaryngology, and endocrinology specialties.

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

2021 ◽  
Vol 12 ◽  
Author(s):  
Otto Lennartsson ◽  
Maria Lodefalk ◽  
Henrik Wehtje ◽  
Eva-Lena Stattin ◽  
Lars Sävendahl ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Clinical Case ◽  
Distal Femur ◽  
De Novo ◽  
Bone Age ◽  
Autism Spectrum ◽  
Tall Stature ◽  
Leg Length ◽  
Early Puberty

ObjectiveTo 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 DesignClinical case report.ResultsThis 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.ConclusionTatton-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.

scholarly journals A quantitative method for the radiological assessment of skeletal maturity using the distal femur

2018 ◽  
Vol 100-B (8) ◽  
pp. 1106-1111 ◽  
Author(s):  
D. M. Knapik ◽  
J. O. Sanders ◽  
A. Gilmore ◽  
D. R. Weber ◽  
D. R. Cooperman ◽  
...  
Keyword(s):  
Distal Femur ◽  
Skeletal Maturity ◽  
Final Height ◽  
Bone Age ◽  
Central Peak ◽  
Chronological Age ◽  
Healthy Children ◽  
Greulich And Pyle ◽  
Femoral Physis ◽  
Peak Value

Aims Using 90% of final height as a benchmark, we sought to develop a quick, quantitative and reproducible method of estimating skeletal maturity based on topographical changes in the distal femoral physis. Patients and Methods Serial radiographs of the distal femoral physis three years prior to, during, and two years following the chronological age associated with 90% of final height were analyzed in 81 healthy children. The distance from the tip of the central peak of the distal femoral physis to a line drawn across the physis was normalized to the physeal width. Results A total of 389 radiographs of the distal femur with corresponding Greulich and Pyle bone ages and known chronological ages were measured. Children reached 90% of final height at a mean age of 11.3 years (sd 0.8) for girls and 13.2 years (sd 0.6) for boys. Linear regression analysis showed higher correlation coefficent in predicting the true age at 90% of final height using chronological age + gender + central peak value (R2 = 0.900) than chronological age + gender (R2 = 0.879) and Greulich and Pyle bone age + gender (R2 = 0.878). Conclusion Chronological age + gender + central peak value provides more accurate prediction of 90% of final height compared with chronological age + gender and Greulich and Pyle bone age + gender. Cite this article: Bone Joint J 2018;100-B:1106–11.

scholarly journals A comparison of 3 different methods for assessment of skeletal age when treating leg-length discrepancies: an inter- and intra-observer study

2022 ◽  
Vol 93 ◽  
pp. 222-228
Author(s):  
Anne Berg Breen ◽  
Harald Steen ◽  
Are Pripp ◽  
Ragnhild Gunderson ◽  
Hilde Kristine Sandberg Mentzoni ◽  
...  
Keyword(s):  
Skeletal Maturity ◽  
Intraclass Correlation ◽  
Age Determination ◽  
Bone Age ◽  
Systematic Difference ◽  
Skeletal Age ◽  
Leg Length ◽  
Left Elbow ◽  
Comparison Results ◽  
Significant Difference

Background and purpose — Skeletal maturity is a crucial parameter when calculating remaining growth in children. We compared 3 different methods, 2 manual and 1 automated, in the radiological assessment of bone age with respect to precision and systematic difference. Material and methods — 66 simultaneous examinations of the left hand and left elbow from children treated for leg-length discrepancies were randomly selected for skeletal age assessment. The radiographs were anonymized and assessed twice with at least 3 weeks’ interval according to the Greulich and Pyle (GP) and Sauvegrain (SG) methods by 5 radiologists with different levels of experience. The hand radiographs were also assessed for GP bone age by use of the automated BoneXpert (BX) method for comparison. Results — The inter-observer intraclass correlation coefficient (ICC) was 0.96 for the GP and 0.98 for the SG method. The inter- and intra-observer standard error of the measurement (SEm) was 0.41 and 0.32 years for the GP method and 0.27 and 0.21 years for the SG method with a significant difference (p < 0.001) between the methods and between the experienced and the less experienced radiologists for both methods (p = 0.003 and p < 0.001). In 25% of the assessments the discrepancy between the GP and the SG methodwas > 1 year. There was no systematic difference comparing either manual method with the automatic BX method. Interpretation — With respect to the precision of skeletal age determination, we recommend using the SG method or preferably the automated BX method based on GP assessments in the calculation of remaining growth.

Creation and Validation of a Shorthand Magnetic Resonance Imaging Bone Age Assessment Tool of the Knee as an Alternative Skeletal Maturity Assessment

2021 ◽  
pp. 036354652110329
Author(s):  
Cary S. Politzer ◽  
James D. Bomar ◽  
Hakan C. Pehlivan ◽  
Pradyumna Gurusamy ◽  
Eric W. Edmonds ◽  
...  
Keyword(s):  
Assessment Tool ◽  
Skeletal Maturity ◽  
Bone Age ◽  
Mri Scan ◽  
Perfect Agreement ◽  
Age Assessment ◽  
Left Hand ◽  
Knee Mri ◽  
Bone Age Assessment ◽  
Hand Radiograph

Background: In managing pediatric knee conditions, an accurate bone age assessment is often critical for diagnostic, prognostic, and treatment purposes. Historically, the Greulich and Pyle atlas (hand atlas) has been the gold standard bone age assessment tool. In 2013, a shorthand bone age assessment tool based on this atlas (hand shorthand) was devised as a simpler and more efficient alternative. Recently, a knee magnetic resonance imaging (MRI) bone age atlas (MRI atlas) was created to circumvent the need for a left-hand radiograph. Purpose: To create a shorthand version of the knee MRI atlas. Study Design: Cohort study (diagnosis); Level of evidence, 2. Methods: A shorthand bone age assessment method was created utilizing the previously published MRI atlas, which utilizes several criteria that are visualized across a series of images. The MRI shorthand draws on characteristic criteria for each age that are best observed on a single MRI scan. For validation, we performed a retrospective assessment of skeletally immature patients. One reader performed the bone age assessment using the MRI atlas and the MRI shorthand on 200 patients. Then, 4 readers performed the bone age assessment with the hand atlas, hand shorthand, MRI atlas, and MRI shorthand on a subset of 22 patients in a blinded fashion. All 22 patients had a knee MRI scan and a left-hand radiograph within 4 weeks of each other. Interobserver and intraobserver reliability, as well as variability among observers, were evaluated. Results: A total of 200 patients with a mean age of 13.5 years (range, 9.08-17.98 years) were included in this study. Also, 22 patients with a mean age of 13.3 years (range, 9.0-15.6 years) had a knee MRI scan and a left-hand radiograph within 4 weeks. The intraobserver and interobserver reliability of all 4 assessment tools were acceptable (intraclass correlation coefficient [ICC] ≥ 0.8; P < .001). When comparing the MRI shorthand with the MRI atlas, there was excellent agreement (ICC = 0.989), whereas the hand shorthand compared with the hand atlas had good agreement (ICC = 0.765). The MRI shorthand also had perfect agreement in 50% of readings among all 4 readers, and 95% of readings had agreement within 1 year, whereas the hand shorthand had perfect agreement in 32% of readings and 77% agreement within 1 year. Conclusion: The MRI shorthand is a simple and efficient means of assessing the skeletal maturity of adolescent patients with a knee MRI scan. This bone age assessment technique had interobserver and intraobserver reliability equivalent to or better than the standard method of utilizing a left-hand radiograph.

scholarly journals Epiphysiodesis for the treatment of tall stature and leg length discrepancy

2021 ◽  
Author(s):  
Madeleine Willegger ◽  
Markus Schreiner ◽  
Alexander Kolb ◽  
Reinhard Windhager ◽  
Catharina Chiari
Keyword(s):  
Surgical Planning ◽  
Multidisciplinary Approach ◽  
Treatment Options ◽  
Bone Age ◽  
Leg Length Discrepancy ◽  
Tall Stature ◽  
Complication Rates ◽  
Leg Length ◽  
Growth Prediction ◽  
Length Discrepancy

SummaryPainful orthopedic conditions associated with extreme tall stature and leg length discrepancy (LLD) include back pain and adopting bad posture. After failure of conservative treatment options, blocking of the growth plates (epiphysiodesis) around the knee emerged as gold standard in patients with tall stature and LLD in the growing skeleton. Surgical planning includes growth prediction and evaluation of bone age. Since growth prediction is associated with a certain potential error, adequate planning and timing of epiphysiodesis are the key for success of the treatment. LLD corrections up to 5 cm can be achieved, and predicted extreme tall stature can be limited. Percutaneous epiphysiodesis techniques are minimally invasive, safe and efficient methods with low complication rates. In general, a multidisciplinary approach should be pursued when treating children and adolescents with tall stature.

scholarly journals Anatomic Variations of the Right Hepatic Duct: Results and Surgical Implications from a Cadaveric Study

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Theodoros Mariolis-Sapsakos ◽  
Vasileios Kalles ◽  
Konstantinos Papatheodorou ◽  
Nikolaos Goutas ◽  
Ioannis Papapanagiotou ◽  
...  
Keyword(s):  
Bile Ducts ◽  
Hepatic Duct ◽  
Anatomical Variations ◽  
Common Hepatic Duct ◽  
Drainage Pattern ◽  
Left Hepatic Duct ◽  
Surgical Interventions ◽  
Drainage Patterns ◽  
The Common ◽  
The Right

Purpose. Thorough understanding of biliary anatomy is required when performing surgical interventions in the hepatobiliary system. This study describes the anatomical variations of right bile ducts in terms of branching and drainage patterns, and determines their frequency. Methods. We studied 73 samples of cadaveric material, focusing on the relationship of the right anterior and posterior segmental branches, the way they form the right hepatic duct, and the main variations of their drainage pattern. Results. The anatomy of the right hepatic duct was typical in 65.75% of samples. Ectopic drainage of the right anterior duct into the common hepatic duct was found in 15.07% and triple confluence in 9.59%. Ectopic drainage of the right posterior duct into the common hepatic duct was discovered in 2.74% and ectopic drainage of the right posterior duct into the left hepatic duct in 4.11%. Ectopic drainage of the right anterior duct into the left hepatic ductal system and ectopic drainage of the right posterior duct into the cystic duct was found in 1.37%. Conclusion. The branching pattern of the right hepatic duct was atypical in 34.25% of cases. Thus, knowledge of the anatomical variations of the extrahepatic bile ducts is important in many surgical cases.

Selective parasympathectomy of automatic and conductile tissues of the canine heart

1985 ◽  
Vol 248 (1) ◽  
pp. H61-H68 ◽  
Author(s):  
W. C. Randall ◽  
J. L. Ardell
Keyword(s):  
Vagal Stimulation ◽  
Superior Vena ◽  
Sympathetic Innervation ◽  
Pulmonary Veins ◽  
Vena Cava ◽  
Dorsal Surface ◽  
Atrial Pacing ◽  
Canine Heart ◽  
Surgical Interventions ◽  
The Right

From right thoracotomy (T4-T5), the canine heart was suspended in its pericardium to expose its major venous inputs. Vagal and sympathetic trunks were prepared for electrical stimulation (10-20 Hz, 5.0 ms, 3-5 V) before and after each separate denervation procedure. Vagal stimulation was instituted with and without concurrent atrial pacing. The following surgical interventions were performed. 1) The superior vena cava was cleared of connective and nervous tissues from the pericardial reflection caudally to the level of the right pulmonary artery. 2) The azygos vein was cleared, tied, and sectioned. 3) The right pulmonary veins were isolated and cleared intrapericardially. 4) The dorsal surface of the atria was dissected between the right and left pulmonary veins and painted with phenol. Each step in the procedure elicited successive stepwise deletion of parasympathetic influences on sinoatrial tissues of the canine heart with only minor ablation of sympathetic inputs. 5) Dissection of the triangular fat pad at the junction of the inferior vena cava and inferior left atrium eliminated the remaining parasympathetic efferent input to the heart with dramatic deletion of atrioventricular block during either left or right vagal stimulation, again with preservation of most of the sympathetic innervation. These experiments clearly demonstrate differential and selective inputs of parasympathetic pathways to sinoatrial (SAN) and atrioventricular (AVN) regions of the dog heart but relatively little interference with sympathetic distributions.(ABSTRACT TRUNCATED AT 250 WORDS)

scholarly journals Transdermal Testosterone Application: Pharmacokinetics and Effects on Pubertal Status, Short-Term Growth, and Bone Turnover

2004 ◽  
Vol 89 (2) ◽  
pp. 681-687 ◽  
Author(s):  
A. Mayo ◽  
H. Macintyre ◽  
A. M. Wallace ◽  
S. F. Ahmed
Keyword(s):  
Bone Turnover ◽  
Bone Age ◽  
Free Testosterone ◽  
Bone Alkaline Phosphatase ◽  
Percentage Change ◽  
Leg Length ◽  
Short Term ◽  
Median Percentage ◽  
Salivary Testosterone ◽  
Acceptable Method

The aim of the study was to assess the effect of transdermal testosterone on free testosterone concentrations in saliva and on short-term growth and bone turnover in boys with growth or pubertal delay. A prospective, randomized, crossover study was conducted over 26 wk with 4 wk of run-in, 8 wk of treatment I (8 or 12 h), 4 wk of washout, 8 wk of treatment II (8 or 12 h), and 4 wk of final washout. The main outcome measures were salivary testosterone profiles during the different study periods; weekly change in lower leg length (LLL) as measured by knemometry, i.e. LLL velocity; absolute and percentage change in bone alkaline phosphatase (bALP) levels; and deoxypyridinoline cross-links measured in urine. Eight boys who took part in the study had a median age of 13.5 yr (range, 12.4–14.9 yr), testicular volume of 3 ml (range, 2–6 ml), height sd score of −2.4 (range, −1.44 to −3.35), and bone age delay of 2 yr (range, 1–3.2 yr). Median salivary testosterone during 8- and 12-h treatments [179 pg/ml (range, 7–3579 pg/ml) and 150 pg/ml (range, 12–3472 pg/ml) (not significant)] was significantly higher than during the run-in and washout blocks (P &lt; 0.0001) [9 pg/ml (range, &lt;7 to 122 pg/ml) and 13 pg/ml (range, &lt;7 to 285 pg/ml) (not significant)]. LLL velocity in the treatment blocks (median, 0.64 mm/wk; range, 0.1–1.08 mm/wk) was significantly higher than during the run-in and washout periods (median, 0.48 mm/wk; range, −0.06 to 0.92 mm/wk) (P &lt; 0.001). The main rise in bALP occurred during the first treatment block with a median percentage change in bALP of 44.2% (range, −4 to 87%) and a smaller percentage change in bALP at the end of the second treatment block of 9.8% (range, −4 to 55%). The increases in bALP were not significantly different between the 8- and 12-h treatment periods, and there was no significant decline during the washout periods. Overnight transdermal testosterone application, as Virormone (5 mg), may be a potentially acceptable method of induction of puberty and stimulates short-term growth and bone turnover.

scholarly journals Indirect blast rupture of the pancreas with a primary unperforated blast injury of the duodenum

2006 ◽  
Vol 63 (2) ◽  
pp. 177-179 ◽  
Author(s):  
Dragan Ignjatovic ◽  
Mile Ignjatovic ◽  
Miodrag Jevtic
Keyword(s):  
Case Report ◽  
Blast Injury ◽  
Gunshot Injury ◽  
Blast Injuries ◽  
Field Hospital ◽  
Surgical Interventions ◽  
Head Of The Pancreas ◽  
The Right ◽  
Head Of Pancreas

Background. To present a patient with an indirect blast rupture of the head of pancreas, as well as with a blast contusion of the duodenum following abdominal gunshot injury. Case report. A patient with the abdominal gunshot injury was submitted to the management of the injury of the liver, gaster and the right kidney in the field hospital. The revealed rupture of the head of the pancreas and the contusion of the duodenum were managed applying the method of Whipple. Conclusion. Indirect blast injuries require extensive surgical interventions, especially under war conditions.

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