Read by QxMD icon Read

jarcho levin syndrome

Suyash Singh, Kuntal K Das, Raj Kumar
Lipomeningomyelocele (LMMC) with Jarcho-Levin syndrome (JLS) is extremely rare. The syndromic association is one of LMMC with JLS is one of phenotype of spondylocostal dysostosis (SCD). SCD is an autosomal-recessive disorder characterized by defects in the vertebrae and abnormalities of the ribs in the form of segmental fusion, malalignment, or absence of a few ribs. These patients are prone to pulmonary insufficiency and repeated infections. Close anesthetic vigil is also needed to maintain optimal ventilation during surgery...
October 2017: Journal of Pediatric Neurosciences
Kenny Yat Hong Kwan, Jason Pui Yin Cheung, Karen Kar Lum Yiu, Kenneth Man Chee Cheung
PURPOSE: Jarcho-Levin syndrome patients commonly suffer from repeated respiratory infections and become ventilator dependent due to an insufficient thoracic volume. Multiple congenital vertebral anomalies are associated with this genetic disorder and results in stunted spine growth. The purpose of this case report is to present the results of a hybrid vertical expandable prosthetic titanium rib (VEPTR) and magnetically controlled growing rod (MCGR) construct for the management of a patient with Jarcho-Levin syndrome...
June 12, 2017: European Spine Journal
Rebeca Barriga Buján, Alba Muinelo Segade, Ana Prado-Carro, Pedro González Herranz, Rafaela Soler Fernández
No abstract text is available yet for this article.
March 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Martí Pons-Odena, Alba Verges, Natalia Arza, Francisco José Cambra
Jarcho-Levin syndrome is a rare disorder characterised by defects in vertebral and costal segmentation of varying severity. Respiratory complications are the main cause of death or severe comorbidity due to a restrictive rib cage. A 3 months old infant with Spondylocostal dysostosis and associated bronchomalacia experiencing severe asynchrony during the weaning process is reported. The Neurally Adjusted Ventilatory Assist (NAVA) mode was used to improve adaptation to mechanical ventilation after Vertical Expandable Prosthetic Titanium Ribs (VEPTRs) were implanted...
February 14, 2017: BMJ Case Reports
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
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
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
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
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
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
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
Jaime L Martinez Santos, Adam A Dmytriw, Sonia Fermin
No abstract text is available yet for this article.
July 21, 2015: BMJ Case Reports
Subramanyam Padma, Palaniswamy Shanmuga Sundaram
No abstract text is available yet for this article.
July 2015: Lung India: Official Organ of Indian Chest Society
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
Neena Jain, Pooja Mathur, Priya Verma, Arvind Khare
No abstract text is available yet for this article.
May 2015: Indian Journal of Anaesthesia
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
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
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
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
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"