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jarcho levin syndrome

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https://www.readbyqxmd.com/read/27739421/jarcho-levin-syndrome-with-splenic-herniation-a-rare-presentation
#1
Namita Chandra, Sanjay Kumar, Vaibhav Raj, Pawan Kumar Vishwakarma, Sheela Sinha, Ram Prakash Saha
BACKGROUND Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and spondylocostal dysplasia, is characterized by varieties of vertebrae and rib anomalies. Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and rib defects on the skeletal survey. CASE REPORT About 400 cases have been reported in world literature and 18 in our Indian literature. We report the case of a one-day-old female baby with a short trunk, short neck, low hairline, apparently long limbs, protuberant abdomen, mild midfacial dysmorphism, low-set ears, and a high-arched palate...
October 14, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/26696746/differential-diagnosis-of-multiple-vertebral-compression-butterfly-vertebrae
#2
Nihal Ozaras, Kevser Gumussu, Saliha Eroglu Demir, Aylin Rezvani
[Purpose] A butterfly vertebra is a rare congenital anomaly resulting from a symmetric fusion defect. Only a few cases of butterfly vertebra have been described. This anomaly may be isolated or associated with Pfeiffer, Jarcho-Levins, Crouzon, or Alagille syndrome. [Subject and Methods] We herein describe a 38-year-old man who presented with neck and low back pain and was found to have butterfly vertebrae at the T9 and L3 levels. He also had Behçet's disease and psoriasis. [Results] The patient's symptoms improved with analgesics and physiotherapy...
November 2015: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/26376227/perinatal-diagnostic-approach-to-fetal-skeletal-dysplasias-six-years-experience-of-a-tertiary-center
#3
Havva Serap Toru, Banu Guzel Nur, Cem Yasar Sanhal, Ercan Mihci, İnanç Mendilcioğlu, Elanur Yilmaz, Gulden Tasova Yilmaz, Irem Hicran Ozbudak, Kamil Karaali, Ozgul M Alper, Fatma Şeyda Karaveli
Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1...
2015: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/26363698/-anaesthesia-for-infant-with-jarcho-levin-syndrome-case-report
#4
Sukran Geze, Ufuk Arslan, Mustafa Tusat
Jarcho Levin syndrome is a rare disorder. There are various vertebral and costal anomalies. Severe deformities and abnormal fusion of ribs and vertebrae cause respiratory insufficiency and pneumonia. We present anaesthesia in a patient with Jarcho Levin syndrome for vesicoureteral reflux.
September 2015: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/26330967/differentiating-between-traumatic-pathology-and-congenital-variant-a-case-report-of-butterfly-vertebra
#5
Orestis Karargyris, Kalliopi Lampropoulou-Adamidou, Lampros-Guiseppe Morassi, Ioannis P Stathopoulos, Sofia N Chatziioannou, Spyros G Pneumaticos
Butterfly vertebra is a rare congenital malformation of the spine, which is usually reported in the literature as an isolated finding. We describe a 40-year-old woman that presented to our emergency department with back pain and sciatica. Initial radiological evaluation revealed an incidental finding of a L4 butterfly vertebra in the anteroposterior and lateral view radiographs. The patient presented with no neurological deficit. This rare congenital anomaly is usually asymptomatic, and awareness of its non-traumatic nature is critical in order to establish a correct diagnosis...
September 2015: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/26323743/anaesthesia-for-infant-with-jarcho-levin-syndrome-case-report
#6
Sukran Geze, Ufuk Arslan, Mustafa Tusat
Jarcho Levin syndrome is a rare disorder. There are various vertebral and costal anomalies. Severe deformities and abnormal fusion of ribs and vertebrae cause respiratory insufficiency and pneumonia. We present anaesthesia in a patient with Jarcho Levin syndrome for vesicoureteral reflux.
September 2015: Brazilian Journal of Anesthesiology
https://www.readbyqxmd.com/read/26239489/a-single-center-experience-of-cns-anomalies-or-neural-tube-defects-in-patients-with-jarcho-levin-syndrome
#7
Nihat Demir, Erdal Peker, İsmail Gülşen, Kemal Ağengin, Sultan Kaba, Oğuz Tuncer
Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases...
March 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/26199296/neurosurgical-management-of-a-large-meningocele-in-jarcho-levin-syndrome-clinical-and-radiological-pearls
#8
Jaime L Martinez Santos, Adam A Dmytriw, Sonia Fermin
No abstract text is available yet for this article.
July 21, 2015: BMJ Case Reports
https://www.readbyqxmd.com/read/26180405/jarcho-levin-syndrome-with-association-of-unilateral-pulmonary-hypoplasia-and-diastometamyelia-a-case-illustration
#9
Subramanyam Padma, Palaniswamy Shanmuga Sundaram
No abstract text is available yet for this article.
July 2015: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/26167215/spondylocostal-dysostosis-jarcho-levine-syndrome-associated-with-occult-spinal-dysraphism-report-of-two-cases
#10
Natarajan Muthukumar
Spondylocostal dysostosis, also known as Jarcho-Levine syndrome, is a rare disorder characterized by multiple vertebral and rib anomalies at birth. The association of occult spinal dysraphic lesions with this entity is rare. Two patients with spondylocostal dysostosis and occult spinal dysraphic lesions, one with type I split cord malformation and another with spinal dermal sinus are being reported. A 7-month-old female child who was operated at birth for imperforate anus was noted to have a dimple at the low back with altered skin color around the dimple...
April 2015: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/26019361/anaesthetic-management-of-a-patient-with-jarcho-levin-syndrome
#11
Neena Jain, Pooja Mathur, Priya Verma, Arvind Khare
No abstract text is available yet for this article.
May 2015: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/25792257/neural-tube-defects-in-jarcho-levin-syndrome-study-of-twenty-eight-cases
#12
Ibrahim Alatas, Huseyin Canaz, Nesrin Akkoyun, Ali Er, Ozkan Demirhan, Deniz Kizilay, Erhan Emel
Jarcho-Levin syndrome (JLS) is a congenital disorder consisting of various vertebral and costal anomalies. Congenital heart defects, abdominal wall malformations, urogenital and anal abnormalities, multiple skeletal anomalies, upper limb anomalies, spina bifida, and inguinal, umbilical and diaphragmatic hernias can be seen as components of JLS. Spina bifida appears to be a common finding in reported JLS cases. We retrospectively reviewed the medical records, plain X-rays and MRIs of patients with spina bifida between 2010 and 2014 and discussed the results...
2015: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/25624929/spondylocostal-dysostosis-with-lipomyelomeningocele-case-report-and-review-of-the-literature
#13
Shailendra D Anjankar, Raju Subodh
Spondylocostal dysostosis (SCDO) is rare anomaly caused due to flawed embryological development of the axial skeleton during preliminary stages of gravidity, characterized by malformed vertebral column and ribs, abridged thorax and kyphoscoliosis. This entity was also reported as a "Jarcho-Levin syndrome" eponym by erstwhile authors, before the introduction of genetic based classification. A literature review showed only three cases of this clinical entity with lipomyelomeningocele. We report the fourth case report of an infant with SCDO with lipomyelomeningocele...
September 2014: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/25434647/chest-wall-hypoplasia-principles-and-treatment
#14
Oscar Henry Mayer
The chest is a dynamic structure. For normal movement it relies on a coordinated movement of the multiple bones, joints and muscles of the respiratory system. While muscle weakness can have clear impact on respiration by decreasing respiratory motion, so can conditions that cause chest wall hypoplasia and produce an immobile chest wall. These conditions, such as Jarcho-Levin and Jeune syndrome, present significantly different challenges than those faced with early onset scoliosis in which chest wall mechanics and thoracic volume may be much closer to normal...
January 2015: Paediatric Respiratory Reviews
https://www.readbyqxmd.com/read/25378514/management-of-thoracic-insufficiency-syndrome-in-patients-with-jarcho-levin-syndrome-using-veptrs-vertical-expandable-prosthetic-titanium-ribs
#15
Joshua G Karlin, Megan K Roth, Vishwas Patil, Davin Cordell, Hope Trevino, James Simmons, Robert M Campbell, Ajeya P Joshi
BACKGROUND: Jarcho-Levin syndrome represents a spectrum of clinical and radiographic irregularities including abnormal vertebral segmentation or formation defects, rib deformities, and short-trunk dwarfism. These abnormalities cause reduced thoracic capacity for lung development, resulting in thoracic insufficiency syndrome. In the present study, we reviewed outcome measures related to scoliotic curve correction, thoracic growth, and respiratory function following VEPTR treatment in patients with Jarcho-Levin syndrome...
November 5, 2014: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/24791932/clinicoradiological-correlation-of-scoliosis-in-children-with-jarcho-levin-and-escobar-syndromes-associated-flat-bone-or-wing-like-imaging-findings
#16
Thangamadhan Bosemani, Andrea Poretti, Jane E Benson, Andreas Meyer-Heim, Thierry A G M Huisman
UNLABELLED: Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of the spine on computed tomography. The clinical phenotypes in these syndromes are variable. A thorough clinical evaluation with imaging correlation is essential. The recognition of underlying spinal anomalies is essential in planning treatment and estimating prognosis...
October 2014: European Journal of Pediatrics
https://www.readbyqxmd.com/read/24741543/lethal-progressive-thoracic-insufficiency-in-a-neonate-due-to-jarcho-levin-syndrome
#17
Euden Bhutia, Arti Maria, Arushi Verma, Sidharth Kumar Sethi
A rare case of Jarcho Levin syndrome (JLS) presenting as a lethal progressive respiratory insufficiency in early neonatal period is reported. The neonate had classical features of this syndrome including vertebral segmentation defects, typical costo-vertebral fusion defects and scoliosis resulting in small thoracic volume and limited chest expansion; all consistent with a clinical diagnosis of JLS with thoracic insufficiency. In addition, our case had a rare association of dextrocardia and acyanotic congenital heart disease...
January 2014: Journal of Clinical Neonatology
https://www.readbyqxmd.com/read/24551977/jarcho-levin-syndrome-presenting-with-severe-hydrocephalus-a-report-of-three-cases
#18
S Yurttutan, H Değirmencioğlu, M Y Oncel, S Kara, F Sari, U Dilmen
Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by defects of spine formation, abnormal fusion of the ribs at the costovertebral and costochondral junction due to abnormal vertebral and costal segmentation. There are two subtypes associated with different distribution and severity of defects in JLS. While vertebral segmentation abnormalities are frequent in spondylo-thoracic subtype costal segmentation and fusion abnormalities are frequent in spondylo-costal subtype. Neural tube defects with severe hydrocephalus are rare findings in this syndrome...
2013: Genetic Counseling
https://www.readbyqxmd.com/read/24526200/jarcho-levin-syndrome-a-rare-syndrome-presented-with-asymptomatic-cardiac-murmur
#19
Vivek Singla, I B Vijayalakshmi, Bhupinder Singh, Chitra Narsimhan
No abstract text is available yet for this article.
2014: BMJ Case Reports
https://www.readbyqxmd.com/read/24147251/normal-and-abnormal-spine-and-thoracic-cage-development
#20
REVIEW
Federico Canavese, Alain Dimeglio
Development of the spine and thoracic cage consists of a complex series of events involving multiple metabolic processes, genes and signaling pathways. During growth, complex phenomena occur in rapid succession. This succession of events, this establishment of elements, is programmed according to a hierarchy. These events are well synchronized to maintain harmonious limb, spine and thoracic cage relationships, as growth in the various body segments does not occur simultaneously at the same magnitude or rate...
2013: World Journal of Orthopedics
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