scholarly journals Rhizomelic limb shortness and abnormal facies: short stature syndrome sharing some manifestations with robinow syndrome

2021 ◽  
pp. 398-401
Author(s):  
Mohit Bajaj ◽  
Ayush Sopori ◽  
Jeevak V Divakaran ◽  
Naveen Rao ◽  
Seema Sharma
Keyword(s):  
Short Stature ◽  
Skeletal Growth ◽  
Lower Limbs ◽  
Nasal Bridge ◽  
Left Hand ◽  
Flat Nasal Bridge ◽  
Radiological Changes ◽  
Robinow Syndrome ◽  
Characteristic Features

In children, short stature and disproportionate skeletal growth are associated with many syndromes and these syndromes have characteristic radiological changes which help in their diagnosis. However, many of them have no well-defined diagnostic criteria, and thus overlap between apparently distinct syndromes is common. Here, we report a child with characteristic features seen distinct from any other dwarfing syndrome known to us with some of the features similar to Robinow syndrome. Newborn had a broad and prominent forehead, mid-face hypoplasia, hypertelorism, flat nasal bridge, upturned nose, elongated philtrum, protruding tongue, single crease in the left hand, widely spaced nipple, brachydactyly in lower limbs, and disproportionately short rhizomelic upper and lower limbs. Based on these features, a diagnosis of Robinow syndrome was made. The case was the first of his kind admitted to our institute. The diagnosis was made clinically after follow-up.

scholarly journals Two Rare Syndromic Syndactyly Cases in Neonates

2021 ◽  
Author(s):  
Pooja Prabhakar Kamath
Keyword(s):  
Genetic Counseling ◽  
Clinical Features ◽  
Lower Limbs ◽  
Alar Cartilage ◽  
Nasal Bridge ◽  
Left Hand ◽  
Rare Syndrome ◽  
First Case ◽  
Male Neonate ◽  
Otopalatodigital Syndrome

Abstract Introduction Isolated findings of syndactyly are benign. However, syndactyly can be associated with rare syndromes that need to be diagnosed for further management and for genetic counseling. Methods We present two cases of syndromic syndactyly in neonates. The first case is a 13-day-old female neonate with dysmorphic features. The neonate had clinical features of prominent forehead, hypertelorism, widely separated sagittal and metopic sutures, down-slanting eyes, low set ears, depressed nasal bridge, micrognathia, cleft palate, pectus excavatum, brachydactyly, and syndactyly of the second to fourth fingers bilaterally in upper limbs and in lower limbs.The second case is a 10-day-old male neonate with dysmorphism in the form of cleft alveolar ridge and palate, hyperplastic frenula, hypoplastic alar cartilage, syndactyly of the left hand, clinodactyly of the left lower limb toes, and amniotic bands. Discussion Case 1 was diagnosed as otopalatodigital syndrome because of the characteristic clinical features. This is a rare syndrome associated with syndactyly that often goes undiagnosed. Otopalatodigital syndrome spectrum disorders comprise of four phenotypically related conditions: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia, and Melnick–Needles syndrome. As it is associated with x-linked inheritance, its severity is more in males.Case 2 was diagnosed to have orofaciodigital syndrome because of the characteristic clinical features. It is another rare syndrome associated with syndactyly having abnormalities in the development of the oral cavity, face, and digits along with intellectual disability and renal system impairment. Conclusion There are fewer publications on these syndromes as they are rare and diagnosis is difficult. Recognizing these syndromes is key to further management and for genetic counseling.

Congenital Syphilis Simulating Bone Neoplasm in 2-Month Old Infant – Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Case Report ◽  
Congenital Syphilis ◽  
Eosinophilic Granuloma ◽  
Osteolytic Lesion ◽  
Lower Limbs ◽  
Upper Body ◽  
Elective Cesarean Section ◽  
Distal Fibula ◽  
X Ray

Introduction: Congenital Syphilis (CS) occurs through the transplacental transmission of Treponema pallidum in inadequately treated or non-treated pregnant women, and is capable of severe consequences such as miscarriage, preterm birth, congenital disease and/or neonatal death. CS has been showing an increasing incidence worldwide, with an increase of 208% from 2009 to 2015 in Brazil. Case report: 2-month old infant receives care in emergency service due to edema of right lower limb with pain in mobilization. X-ray with osteolytic lesion in distal fibula. Infant was sent to the Pediatrics Oncology clinic. Perinatal data: 7 prenatal appointments, negative serology at 10 and 30 weeks of gestation. End of pregnancy tests were not examined and tests for mother’s hospital admission were not requested. Mother undergone elective cesarean section at 38 weeks without complications. During the pediatric oncologist appointment, patient showed erythematous-squamous lesions in neck and other scar-like lesions in upper body. A new X-ray of lower limbs showed lesions in right fibula with periosteal reaction associated with aggressive osteolytic lesion compromising distal diaphysis, with cortical bone rupture and signs of pathological fracture, suggestive of eosinophilic granuloma. She was hospitalized for a lesion biopsy. Laboratory tests: hematocrit: 23.1 / hemoglobin 7.7 / leukocytes 10,130 (without left deviation) / platelets 638,000 / Negative Cytomegalovirus IgG and IgM and Toxoplasmosis IgG and IgM / VDRL 1:128. Congenital syphilis diagnosis with skin lesions, bone alterations and anemia. Lumbar puncture: glucose 55 / total proteins 26 / VDRL non reagent / 13 leukocytes (8% neutrophils; 84% monomorphonuclear; 8% macrophages) and 160 erythrocytes / negative VDRL and culture. X-ray of other long bones, ophthalmological evaluation and abdominal ultrasound without alterations. Patient was hospitalized for 14 days for treatment with Ceftriaxone 100mg/kg/day, due to the lack of Crystalline Penicillin in the hospital. She is now under outpatient follow-up. Discussion: CS is responsible for high rates of morbidity and mortality. The ongoing increase of cases of this pathology reflects a severe health issue and indicates failures in policies for the prevention of sexually transmitted diseases, with inadequate follow-up of prenatal and maternity protocols.

scholarly journals Lipoprotein(a) and Cardiovascular Outcomes after Revascularization of Carotid and Lower Limbs Arteries

Biomolecules ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 257
Author(s):  
Marat V. Ezhov ◽  
Narek A. Tmoyan ◽  
Olga I. Afanasieva ◽  
Marina I. Afanasieva ◽  
Sergei N. Pokrovsky
Keyword(s):  
Primary Endpoint ◽  
Cardiovascular Events ◽  
Cardiovascular Outcomes ◽  
Lower Limbs ◽  
Lipid Lowering ◽  
Lipid Lowering Therapy ◽  
Cox Regression Analysis ◽  
Lipoprotein A ◽  
Secondary Endpoints

Background: Despite high-intensity lipid-lowering therapy, there is a residual risk of cardiovascular events that could be associated with lipoprotein(a) (Lp(a)). It has been shown that there is an association between elevated Lp(a) level and cardiovascular outcomes in patients with coronary heart disease. Data about the role of Lp(a) in the development of cardiovascular events after peripheral revascularization are scarce. Purpose: To evaluate the relationship of Lp(a) level with cardiovascular outcomes after revascularization of carotid and lower limbs arteries. Methods: The study included 258 patients (209 men, mean age 67 years) with severe carotid and/or lower extremity artery disease, who underwent successful elective peripheral revascularization. The primary endpoint was the composite of nonfatal myocardial infarction, nonfatal stroke, or cardiovascular death. The secondary endpoint was the composite of primary endpoint and repeated revascularization. Results: For 36-month follow-up, 29 (11%) primary and 128 (50%) secondary endpoints were registered. There was a greater risk of primary (21 (8%) vs. 8 (3%); hazard ratio (HR), 3.0; 95% confidence interval (CI) 1.5–6.3; p < 0.01) and secondary endpoints (83 (32%) vs. 45 (17%), HR, 2.8; 95% CI 2.0–4.0; p < 0.01) in patients with elevated Lp(a) level (≥30 mg/dL) compared to patients with Lp(a) < 30 mg/dL. Multivariable-adjusted Cox regression analysis revealed that Lp(a) was independently associated with the incidence of cardiovascular outcomes. Conclusions: Patients with peripheral artery diseases have a high risk of cardiovascular events. Lp(a) level above 30 mg/dL is significantly and independently associated with cardiovascular events during 3-year follow-up after revascularization of carotid and lower limbs arteries.

Autologous Skin Fibroblast and Keratinocyte Grafts in the Treatment of Chronic Foot Ulcers in Aging Type 2 Diabetic Patients

2011 ◽  
Vol 101 (1) ◽  
pp. 55-58 ◽  
Author(s):  
Matteo Monami ◽  
Maria Vivarelli ◽  
Carla Maria Desideri ◽  
Giulio Ippolito ◽  
Niccolò Marchionni ◽  
...  
Keyword(s):  
Healing Time ◽  
Lower Limbs ◽  
Foot Ulcers ◽  
Diabetic Patients ◽  
Consecutive Series ◽  
Type 2 Diabetic Patients ◽  
Skin Cell ◽  
Type 2 Diabetic

Background: We assessed the tolerability and efficacy of autologous skin cell grafts in older type 2 diabetic patients with chronic foot ulcers. Methods: Treatment with Hyalograft 3D and Laserskin Autograft was proposed to a consecutive series of type 2 diabetic patients older than 65 years affected by long-standing (&gt;6 months) foot ulcers with an area greater than 15 cm2. Ulcer healing rates and measurements of ulcer area were determined monthly for 12 months. Results: Seven patients with 12 ulcers, nine of which received the described treatment, were enrolled. During 12-month follow-up, all of the ulcers healed except one. In the remaining eight ulcers, the median healing time was 21 weeks (interquartile range, 4–29 weeks). Conclusions: Autologous skin cell grafts are feasible, well tolerated, and apparently effective in the treatment of diabetic ulcers of the lower limbs in advanced age. Age did not seem to moderate healing times. (J Am Podiatr Med Assoc 101(1): 55–58, 2011)

Risk of Venous Thromboembolism Recurrence: High Negative Predictive Value of D-dimer Performed after Oral Anticoagulation Is Stopped

2002 ◽  
Vol 87 (01) ◽  
pp. 7-12 ◽  
Author(s):  
Cristina Legnani ◽  
Benilde Cosmi ◽  
Giuliana Guazzaloca ◽  
Claudia Pancani ◽  
Sergio Coccheri ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Negative Predictive Value ◽  
Predictive Value ◽  
Recurrent Events ◽  
Oral Anticoagulant Therapy ◽  
Lower Limbs ◽  
First Episode ◽  
Vein Thrombosis ◽  
D Dimer

SummaryIn some patients with previous venous thromboembolism (VTE) D-dimer levels (D-Dimer) tend to increase after oral anticoagulant therapy (OAT) is stopped. The aim of our study was to evaluate the predictive value of D-Dimer for the risk of VTE recurrence after OAT withdrawal. After a first episode of deep vein thrombosis (DVT) of the lower limbs and/or pulmonary embolism (PE), 396 patients (median age 67 years, 198 males) were followed from the day of OAT discontinuation for 21 months. D-dimer was measured on the day of OAT withdrawal (T1), 3-4 weeks (T2) and 3 months (+/− 10 days, T3) thereafter. The main outcome events of the study were: objectively documented recurrent DVT and/or PE. D-dimer was found to be increased in 15.5%, 40.3% and 46.2% of the patients at T1, T2 and T3, respectively. In 199 (50.2%) patients, D-dimer levels were elevated in at least one measurement. During a follow-up of 628.4 years, 40 recurrences were recorded (10.1% of patients; 6.4% patient-years of follow-up). D-dimer was increased in at least one measurement in 28 of these cases, but remained normal in 11 subjects (three of whom had recurrent events triggered by circumstantial factors, three with malignancyassociated factors) (in one subject D-dimer was not measured). The negative predictive value (NPV) of D-dimer was 95.6% (95% CI 91.6-98.1) at T3 and was even higher (96.7%; 95% CI 92.9-98.8) after exclusion of the six recurrences due to circumstantial factors. Only five idiopathic recurrences occurred in the 186 patients with consistently normal D-dimer. In conclusion, D-dimer has a high NPV for VTE recurrence when performed after OAT discontinuation.

scholarly journals Cognitive effects of aromatase inhibitor therapy in peripubertal boys

2010 ◽  
Vol 163 (1) ◽  
pp. 149-155 ◽  
Author(s):  
M Hero ◽  
S Maury ◽  
E Luotoniemi ◽  
E Service ◽  
L Dunkel
Keyword(s):  
Aromatase Inhibitor ◽  
Short Stature ◽  
Cognitive Performance ◽  
Verbal Memory ◽  
Memory Function ◽  
Serum Testosterone ◽  
High Serum ◽  
Cognitive Effects ◽  
Double Blind

ObjectiveAromatase inhibitors, blockers of oestrogen biosynthesis, have emerged as a new potential treatment modality for boys with short stature. The cognitive effects of such therapy are unknown. In this study, we explored the effects of aromatase inhibition on cognitive performance in peripubertal boys.DesignProspective, double-blind, randomised, placebo-controlled clinical study.MethodsTwenty-eight boys, aged 9.0–14.5 years, with idiopathic short stature were treated with the aromatase inhibitor letrozole (2.5 mg/day) or placebo, for 2 years. During the treatment, the progression of physical signs of puberty and the concentrations of sex hormones were followed up. A selection of cognitive tests, focusing on memory function, was administered to the participants at entry, at 12 months and at 24 months after the start of the treatment.ResultsLetrozole effectively inhibited the conversion of androgen to oestrogen, as indicated by high serum testosterone and low serum oestradiol concentrations in letrozole-treated boys who progressed into puberty. In both the groups, there was a gain in performance during the follow-up period in tests of verbal performance, in most of the tests of visuospatial performance and in some tests of verbal memory. No significant differences between the letrozole- and placebo-treated boys in development of cognitive performance were found in any of the tests during the follow-up period.ConclusionsOur results suggest that blockade of oestrogen biosynthesis with an aromatase inhibitor does not influence cognitive performance in peripubertal males.

scholarly journals Custom-Made 3D-Printed Implants as Novel Approach to Reconstructive Surgery after Oncologic Resection in Pediatric Patients

2021 ◽  
Vol 10 (5) ◽  
pp. 1056
Author(s):  
Giovanni Beltrami ◽  
Gabriele Ristori ◽  
Anna Maria Nucci ◽  
Alberto Galeotti ◽  
Angela Tamburini ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Soft Tissues ◽  
Lower Limbs ◽  
Host Bone ◽  
Limb Salvage Surgery ◽  
Musculoskeletal Tumor ◽  
Musculoskeletal Tumor Society ◽  
Custom Made ◽  
3D Printed

Recently, custom-made 3D-printed prostheses have been introduced for limb salvage surgery in adult patients, but their use has not been described in pediatric patients. A series of 11 pediatric patients (mean age 10.8 years; range 2–13) with skeletal tumors treated with custom-made implants for the reconstruction of bony defects is described. Patients were followed up every 3 months. Functional results were evaluated by the Musculoskeletal Tumor Society Score (MSTS) for upper and lower limbs. The mean follow-up was 25.7 months (range 14–44). Three patients died after a mean of 19.3 months postoperatively—two because of disease progression and the other from a previous malignancy. Three patients experienced complications related to soft tissues. One patient required device removal, debridement, and antibiotic pearls for postoperative infection. Partial osseointegration between grafts and host bone was observed within a mean of 4 months. At the final follow-up, mean MSTS score was 75%. 3D prostheses may yield biological advantages due to possible integration with the host bone and also through the use of vascularized flaps. Further research is warranted.

Abstract TP156: Robot-Guided Ankle and Knee Therapeutic Training Improves Motor Functions in Stroke

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Yunju Lee ◽  
Kai Chen ◽  
Richard L Harvey ◽  
Elliot J Roth ◽  
Li-Qun Zhang
Keyword(s):  
Range Of Motion ◽  
Knee Flexion ◽  
Haptic Feedback ◽  
Berg Balance Scale ◽  
Lower Limbs ◽  
Active Movement ◽  
Stroke Survivors ◽  
Movement Training ◽  
Knee Rehabilitation

Introduction: Stroke survivors develop substantial disability such as weakness, spasticity, increased stiffness, and reduced range of motion in lower limbs, contributing to reduced quality of life. It is important to stretch impaired ankle and knee to increase range of motion and reduce spasticity, and to conduct active movement training to improve balance and locomotion. Hypothesis: We addressed the hypotheses that robot-aided ankle and knee training will reduce motor impairments and improve balance and gait functions, and the improvements will maintain to the 6-weeks follow-up. Methods: Seven male stroke survivors participated in the robot-guided ankle and knee rehabilitation training using a pair of ankle and knee rehabilitation robots over 18 training sessions (3 sessions/week for 6 weeks). Three evaluations were done before and after training, and 6 weeks follow-up. Each session involved passive stretching under intelligent control and active movement training under real-time, audiovisual and haptic feedback. About equal time was spent on the ankle and knee training. Results: We found significant improvement in 6-Minute Walk Test (6MWT: 294.8 m pre-training to 386.4 m post training; p<0.01), Berg Balance Scale (BBS, 45 pre to 52 post; p<0.05), ankle active range of motion (AROM) (-11.7° pre to 1.7° post; p<0.05, a negative value means not being able to reach 0° dorsiflexion), passive ROM in dorsiflexion (12.7° pre to 23.3° post; p<0.01), and dorsiflexion muscle strength (-0.3 Nm pre to 5.7 Nm post; p<0.05, negative means lower than the passive torque at 0° ankle dorsiflexion). The knee had significant improvement in AROM in extension against the load of the robot (34.8° pre to 15.9° knee flexion post; p<0.05) and maximal flexion strength at 90° knee flexion (19.3 Nm pre to 31.7 Nm post; p<0.01). At the follow-up, the outcomes were found as similar results of post evaluation, e.g., 379m (p<0.05) in 6MWT, 51 (p<0.05) in BBS, and 5.2 Nm (p=0.05) in dorsiflexion strength. Conclusions: In conclusions, robot-guided stretching and active movement training reduced impairments at the knee and ankle of stroke survivors resulting in improved mobility. Furthermore, the effect of training was maintained at the 6-weeks follow-up after the treatment.

METABOLIC AND ORTHOPEDIC ASPECT OF X-LINKED VITAMIN D-RESISTANT HYPOPHOSPHATEMIC RICKETS

2021 ◽  
pp. 42-43
Author(s):  
Rahul Kumar ◽  
Rajni Kumari ◽  
Shailesh Kumar ◽  
Santosh Kumar
Keyword(s):  
Vitamin D ◽  
Surgical Correction ◽  
Lower Limbs ◽  
Hypophosphatemic Rickets ◽  
Bone Lengthening ◽  
Normal Range ◽  
Bone Deformity ◽  
Bone Maturation ◽  
Leg Axis

INTRODUCTION: - The X-linked vitamin D-resistant hypophosphatemic rickets (VDXLR) is a metabolic disorder. Medication treatment consists of oral phosphate substitution and supplementation of active vitamin D compounds. Our study aimed to review our patients with VDXLR, focusing on those undergoing surgery, mainly lengthening procedures. The main parameters of interest were growth, height, the axis of the lower limbs, pain, and degenerative arthropathy. METHODS: - Twelve patients with VDXLR were followed at our institution. Eight patients underwent surgical correction, and three of them in combination with bone lengthening. The corrections were executed at the end of growth in the patients. Clinical end points were height, leg axis, and pain. RESULTS: - Single bilateral surgical correction was performed in six patients; one patient had three and ve corrections. Bone lengthening was performed in three patients. At the last follow-up, the height of seven operated patients was within normal range. In addition, the leg axis was normalized in six patients with mild genua vara in two. Bone healing was excellent, and no surgical complications. There was no one radiological evidence of degenerative arthropathy. CONCLUSIONS: - In case of bone deformity, surgery can safely be performed, independent of age or bone maturation. All patients were happy with the outcomes of axial corrective surgery and bone lengthening, and in the majority. Only one corrective intervention was needed.

“Craniotomy Within Craniotomy” Technique for Safe Resection of an Intracranial Arteriovenous Malformation With Frontal Bony Erosion: 2-Dimensional Operative Video

2021 ◽  
Author(s):  
MirHojjat Khorasanizadeh ◽  
Kristine Ravina ◽  
Aristotelis Filippidis ◽  
Christopher S Ogilvy
Keyword(s):  
Surgical Resection ◽  
Endovascular Embolization ◽  
Acute Onset ◽  
Bone Flap ◽  
Intracranial Arteriovenous Malformation ◽  
Excessive Bleeding ◽  
Left Hand ◽  
The Right ◽  
Venous Varix

Abstract Surgical resection is one option in the treatment of large high-grade brain arteriovenous malformations (AVMs). Resection of AVMs with skull-eroding components can be challenging due to the risk of excessive bleeding from these components during craniotomy and bone flap removal. We present a case of a 25-yr-old woman who presented with an acute onset right-sided frontal headache. She was found to have a large, frontal Spetzler-Martin grade IV AVM with an associated dural AVM. The AVM had caused focal erosions of the right frontal bone by a venous varix traversing the region of the calvarial defect. An elective staged endovascular embolization followed by surgical resection was recommended considering the patient's young age and the large size of the AVM located in a noneloquent area. Given the high risk of intraoperative hemorrhage during the craniotomy portion of the procedure, a “craniotomy within craniotomy” approach was planned. During this approach, a small rectangle of bone, including the portion eroded by the venous varix, was left in place, while the larger bone flap surrounding it was removed for an initial approach to the AVM. The small bony piece was safely removed at later stages of resection once the arterial feeders had been reasonably obliterated. Immediate postoperative catheter angiogram demonstrated good filling of the intracranial vascular territories with no residual AVM. The patient developed mild left facial and left hand weakness postoperatively, which resolved after 2 wk of follow-up. The patient remained neurologically intact on further follow-up.

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