Beijing, China
Beijing, China

Time filter

Source Type

Wilhelm-Bals A.,Children Hospital | Parvex P.,Children Hospital | Magdelaine C.,University of Limoges | Girardin E.,Children Hospital
Pediatrics | Year: 2012

Neonatal primary hyperparathyroidism (NPHT) is associated with an inactivating homozygous mutation of the calcium sensing receptor (CaSR). The CaSR is expressed most abundantly in the parathyroid glands and the kidney and regulates calcium homeostasis through its ability to modulate parathormone secretion and renal calcium reabsorption. NPHT leads to life threatening hypercalcemia, nephrocalcinosis, bone demineralization, and neurologic disabilities. Surgery is the treatment of choice. While waiting for surgery, bisphosphonates offer a good alternative to deal with hypercalcemia. Cinacalcet is a class II calcimimetic that increases CaSR affinity for calcium, leading to parathormone suppression and increased calcium renal excretion. At present, there is little evidence as to whether cinacalcet could improve the function of mutant CaSR in NPHT. We report a case of NPHT, treated successfully with bisphosphonates and cinacalcet after surgery failure. To our knowledge, it is the first time cinacalcet has been used for NPHT. Copyright © 2012 by the American Academy of Pediatrics.


News Article | December 1, 2016
Site: www.eurekalert.org

DURHAM, N.C. -- Sensory problems are common to autism spectrum disorders. Some individuals with autism may injure themselves repetitively -- for example, pulling their hair or banging their heads -- because they're less sensitive to pain than other people. New research points to a potential mechanism underlying pain insensitivity in autism. The study, conducted by two teams at Duke University and appearing online Dec. 1 in the journal Neuron, is the first to connect autism to one of the most well-studied pain molecules, called TRPV1 (transient receptor potential ion channel subtype V1), which is a receptor for the main spicy component of chili peppers. "Not enough research has been done on the mechanisms driving sensory problems in autism, but it's important because sensory processing probably affects to some degree how the brain develops," said co-author Yong-hui Jiang, M.D., Ph.D., associate professor of pediatrics and neurobiology at Duke. Jiang collaborated with Ru-Rong Ji, Ph.D., professor of anesthesiology and neurobiology and chief of pain research in Duke University School of Medicine's Department of Anesthesiology. In a study published earlier this year, Jiang and other collaborators at Duke described a mouse model of autism in which they deleted a prominent autism gene called SHANK3, which is mutated in 1 percent of people with the disorder. These mice show several features of autism, including social deficits and excessive self-grooming. That study did not examine pain. But about 70 percent of individuals with autism or a related disorder called Phelan-McDermid syndrome who have mutations in SHANK3 are known to have sensory processing problems, according to Jiang, who treats children with autism at Duke's Children Hospital & Health Center. In the new study, Ji's group put SHANK3-deficient mice through a battery of sensory tests, finding that the animals had lower sensitivity than normal mice to heat and heat-related pain -- akin to the soreness a person feels after a sunburn. It turns out that the SHANK3 protein is normally present not only in the brain, but also in a cluster of pain-sensing neurons called the dorsal root ganglion in mice. The group also found SHANK3 in the same types of cells from human donors who did not have autism. "This was a big surprise that SHANK3 is expressed in the peripheral nervous system, but before this study, no one had ever looked for it outside of the brain," Ji said. The scientists found that TRPV1 and SHANK3 are actually present together in sensory neurons of the dorsal root ganglion, and that they interact. In the mice missing SHANK3, TRPV1 never makes it to the cell surface, where it normally does its job. Missing even half of normal level of SHANK3 drastically lowers TRPV1's ability to transmit pain signals, suggesting that SHANK3 is a crucial molecule for pain sensation. SHANK3 is better known for its role in the brain. It is found in the tiny clefts called synapses where signals are passed from one neuron to the next. Until now, it was believed to be present only in the receiving end of the synapse, called the postsynaptic terminal, where it acts as a scaffold to secure specific receptors that receive chemical messages. The new study also shows that SHANK3 is expressed on the sending sides of the synapse, called presynaptic terminals. The scientists hope to understand next what the protein might be doing there. "That changes our understanding of how these two components (of the synapse) work together to contribute to autism-related behavior and will change how we develop effective treatments," Jiang said. TRPV1 blockers are already the focus of intense research and development, but these compounds come with side effects. The new study suggests a more specific way to block TRPV1 -- through its interaction with SHANK3 -- in order to avoid these side effects, Ji said. Ji and Jiang are both members of the Duke Institute for Brain Sciences. The study also includes three co-first authors: Qingjian Han from Ji's group who discovered SHANK3 in sensory neurons and pain defects in SHANK3 mutant mice; Yong Ho Kim, an electrophysiologist in Ji's group who found diminished TRPV1 function in SHANK3 mutant mice; and Xiaoming Wang from Jiang's lab who generated SHANK3 mutant mice. This research was supported by the National Institutes of Health (R01 NS87988, R01 DE17794, R01 DE22743, R01 MH098114, R21 HD077197, and R21 MH1043136) and the Phelan-McDermid Syndrome Foundation. CITATION: "SHANK3 Deficiency Impairs Heat Hyperalgesia and TRPV1 Signaling in Primary Sensory Neurons," Qingjian Han, Yong Ho Kim, Xiaoming Wang, Di Liu, Zhi-Jun Zhang, Alexandra L. Bey, Mark Lay, Wonseok Chang, Temugin Berta, Yan Zhang, Yong-Hui Jiang, and Ru-Rong Ji. Neuron, Dec. 21, 2016. DOI: 10.1016/j.neuron.2016.11.007


News Article | January 26, 2016
Site: www.biosciencetechnology.com

In patients suffering from Type 1 diabetes, the immune system attacks the pancreas, eventually leaving patients without the ability to naturally control blood sugar. These patients must carefully monitor the amount of sugar in their blood, measuring it several times a day and then injecting themselves with insulin to keep their blood sugar levels within a healthy range. However, precise control of blood sugar is difficult to achieve, and patients face a range of long-term medical problems as a result. A better diabetes treatment, many researchers believe, would be to replace patients’ destroyed pancreatic islet cells with healthy cells that could take over glucose monitoring and insulin release. This approach has been used in hundreds of patients, but it has one major drawback — the patients’ immune systems attack the transplanted cells, requiring patients to take immunosuppressant drugs for the rest of their lives. Now, a new advance from MIT, Boston Children’s Hospital, and several other institutions may offer a way to fulfill the promise of islet cell transplantation. The researchers have designed a material that can be used to encapsulate human islet cells before transplanting them. In tests on mice, they showed that these encapsulated human cells could cure diabetes for up to six months, without provoking an immune response. Although more studies are needed, this approach “has the potential to provide diabetics with a new pancreas that is protected from the immune system, which would allow them to control their blood sugar without taking drugs. That’s the dream,” says Daniel Anderson, the Samuel A. Goldblith Associate Professor in MIT’s Department of Chemical Engineering, a member of MIT’s Koch Institute for Integrative Cancer Research and Institute for Medical Engineering and Science (IMES), and a research fellow in the Department of Anesthesiology at Boston Children’s Hospital. Anderson is the senior author of two studies describing this method in the Jan. 25 issues of Nature Medicine and Nature Biotechnology. Researchers from Harvard University, the University of Illinois at Chicago, the Joslin Diabetes Center, and the University of Massachusetts Medical School also contributed to the research. Since the 1980s, a standard treatment for diabetic patients has been injections of insulin produced by genetically engineered bacteria. While effective, this type of treatment requires great effort by the patient and can generate large swings in blood sugar levels. At the urging of JDRF director Julia Greenstein, Anderson, Langer, and colleagues set out several years ago to come up with a way to make encapsulated islet cell transplantation a viable therapeutic approach. They began by exploring chemical derivatives of alginate, a material originally isolated from brown algae. Alginate gels can be made to encapsulate cells without harming them, and also allow molecules such as sugar and proteins to move through, making it possible for cells inside to sense and respond to biological signals. However, previous research has shown that when alginate capsules are implanted in primates and humans, scar tissue eventually builds up around the capsules, making the devices ineffective. The MIT/Children’s Hospital team decided to try to modify alginate to make it less likely to provoke this kind of immune response. “We decided to take an approach where you cast a very wide net and see what you can catch,” said Arturo Vegas, a former MIT and Boston Children’s Hospital postdoc who is now an assistant professor at Boston University. Vegas is the first author of the Nature Biotechnology paper and co-first author of the Nature Medicine paper. “We made all these derivatives of alginate by attaching different small molecules to the polymer chain, in hopes that these small molecule modifications would somehow give it the ability to prevent recognition by the immune system.” After creating a library of nearly 800 alginate derivatives, the researchers performed several rounds of tests in mice and nonhuman primates. One of the best of those, known as triazole-thiomorpholine dioxide (TMTD), they decided to study further in tests of diabetic mice. They chose a strain of mice with a strong immune system and implanted human islet cells encapsulated in TMTD into a region of the abdominal cavity known as the intraperitoneal space. The pancreatic islet cells used in this study were generated from human stem cells using a technique recently developed by Douglas Melton, a professor at Harvard University who is an author of the Nature Medicine paper. Following implantation, the cells immediately began producing insulin in response to blood sugar levels and were able to keep blood sugar under control for the length of the study, 174 days. “The really exciting part of this was being able to show, in an immune-competent mouse, that when encapsulated these cells do survive for a long period of time, at least six months,” said Omid Veiseh, a senior postdoc at the Koch Institute and Boston Children’s hospital, co-first author of the Nature Medicine paper, and an author of the Nature Biotechnology paper. “The cells can sense glucose and secrete insulin in a controlled manner, alleviating the mice’s need for injected insulin.” The researchers also found that 1.5-millimeter diameter capsules made from their best materials (but not carrying islet cells) could be implanted into the intraperitoneal space of nonhuman primates for at least six months without scar tissue building up. “The combined results from these two papers suggests that these capsules have real potential to protect transplanted cells in human patients,” said Robert Langer, the David H. Koch Institute Professor at MIT, a senior research associate at Boston’s Children Hospital, and co-author on both papers.  “We are so pleased to see this research in cell transplantation reach these important milestones.” Cherie Stabler, an associate professor of biomedical engineering at the University of Florida, said this approach is impressive because it tackles all aspects of the problem of islet cell delivery, including finding a source of cells, preventing an immune response, and developing a suitable delivery material. “It’s such a complex, multipronged problem that it’s important to get people from different disciplines to address it,” said Stabler, who was not involved in the research. “This is a great first step towards a clinically relevant, cell-based therapy for Type I diabetes.” The researchers now plan to further test their new materials in nonhuman primates, with the goal of eventually performing clinical trials in diabetic patients. If successful, this approach could provide long-term blood sugar control for such patients. “Our goal is to continue to work hard to translate these promising results into a therapy that can help people,” Anderson said. “Being insulin-independent is the goal,” Vegas said. “This would be a state-of-the-art way of doing that, better than any other technology could. Cells are able to detect glucose and release insulin far better than any piece of technology we’ve been able to develop.” The researchers are also investigating why their new material works so well. They found that the best-performing materials were all modified with molecules containing a triazole group — a ring containing two carbon atoms and three nitrogen atoms. They suspect this class of molecules may interfere with the immune system’s ability to recognize the material as foreign. The work was supported, in part, by the JDRF, the Leona M. and Harry B. Helmsley Charitable Trust, the National Institutes of Health, and the Tayebati Family Foundation. Other authors of the papers include MIT postdoc Joshua Doloff; former MIT postdocs Minglin Ma and Kaitlin Bratlie; MIT graduate students Hok Hei Tam and Andrew Bader; Jeffrey Millman, an associate professor at Washington University School of Medicine; Mads Gürtler, a former Harvard graduate student; Matt Bochenek, a graduate student at the University of Illinois at Chicago; Dale Greiner, a professor of medicine at the University of Massachusetts Medical School; Jose Oberholzer, an associate professor at the University of Illinois at Chicago; and Gordon Weir, a professor of medicine at the Joslin Diabetes Center.


News Article | January 27, 2016
Site: news.mit.edu

In patients suffering from Type 1 diabetes, the immune system attacks the pancreas, eventually leaving patients without the ability to naturally control blood sugar. These patients must carefully monitor the amount of sugar in their blood, measuring it several times a day and then injecting themselves with insulin to keep their blood sugar levels within a healthy range. However, precise control of blood sugar is difficult to achieve, and patients face a range of long-term medical problems as a result. A better diabetes treatment, many researchers believe, would be to replace patients’ destroyed pancreatic islet cells with healthy cells that could take over glucose monitoring and insulin release. This approach has been used in hundreds of patients, but it has one major drawback — the patients’ immune systems attack the transplanted cells, requiring patients to take immunosuppressant drugs for the rest of their lives. Now, a new advance from MIT, Boston Children’s Hospital, and several other institutions may offer a way to fulfill the promise of islet cell transplantation. The researchers have designed a material that can be used to encapsulate human islet cells before transplanting them. In tests on mice, they showed that these encapsulated human cells could cure diabetes for up to six months, without provoking an immune response. Although more studies are needed, this approach “has the potential to provide diabetics with a new pancreas that is protected from the immune system, which would allow them to control their blood sugar without taking drugs. That’s the dream,” says Daniel Anderson, the Samuel A. Goldblith Associate Professor in MIT’s Department of Chemical Engineering, a member of MIT’s Koch Institute for Integrative Cancer Research and Institute for Medical Engineering and Science (IMES), and a research fellow in the Department of Anesthesiology at Boston Children’s Hospital. Anderson is the senior author of two studies describing this method in the Jan. 25 issues of Nature Medicine and Nature Biotechnology. Researchers from Harvard University, the University of Illinois at Chicago, the Joslin Diabetes Center, and the University of Massachusetts Medical School also contributed to the research. Since the 1980s, a standard treatment for diabetic patients has been injections of insulin produced by genetically engineered bacteria. While effective, this type of treatment requires great effort by the patient and can generate large swings in blood sugar levels. At the urging of JDRF director Julia Greenstein, Anderson, Langer, and colleagues set out several years ago to come up with a way to make encapsulated islet cell transplantation a viable therapeutic approach. They began by exploring chemical derivatives of alginate, a material originally isolated from brown algae. Alginate gels can be made to encapsulate cells without harming them, and also allow molecules such as sugar and proteins to move through, making it possible for cells inside to sense and respond to biological signals. However, previous research has shown that when alginate capsules are implanted in primates and humans, scar tissue eventually builds up around the capsules, making the devices ineffective. The MIT/Children’s Hospital team decided to try to modify alginate to make it less likely to provoke this kind of immune response. “We decided to take an approach where you cast a very wide net and see what you can catch,” says Arturo Vegas, a former MIT and Boston Children’s Hospital postdoc who is now an assistant professor at Boston University. Vegas is the first author of the Nature Biotechnology paper and co-first author of the Nature Medicine paper. “We made all these derivatives of alginate by attaching different small molecules to the polymer chain, in hopes that these small molecule modifications would somehow give it the ability to prevent recognition by the immune system.” After creating a library of nearly 800 alginate derivatives, the researchers performed several rounds of tests in mice and nonhuman primates. One of the best of those, known as triazole-thiomorpholine dioxide (TMTD), they decided to study further in tests of diabetic mice. They chose a strain of mice with a strong immune system and implanted human islet cells encapsulated in TMTD into a region of the abdominal cavity known as the intraperitoneal space. The pancreatic islet cells used in this study were generated from human stem cells using a technique recently developed by Douglas Melton, a professor at Harvard University who is an author of the Nature Medicine paper. Following implantation, the cells immediately began producing insulin in response to blood sugar levels and were able to keep blood sugar under control for the length of the study, 174 days. “The really exciting part of this was being able to show, in an immune-competent mouse, that when encapsulated these cells do survive for a long period of time, at least six months,” says Omid Veiseh, a senior postdoc at the Koch Institute and Boston Children’s hospital, co-first author of the Nature Medicine paper, and an author of the Nature Biotechnology paper. “The cells can sense glucose and secrete insulin in a controlled manner, alleviating the mice’s need for injected insulin.” The researchers also found that 1.5-millimeter diameter capsules made from their best materials (but not carrying islet cells) could be implanted into the intraperitoneal space of nonhuman primates for at least six months without scar tissue building up. “The combined results from these two papers suggests that these capsules have real potential to protect transplanted cells in human patients,” says Robert Langer, the David H. Koch Institute Professor at MIT, a senior research associate at Boston’s Children Hospital, and co-author on both papers.  “We are so pleased to see this research in cell transplantation reach these important milestones.” Cherie Stabler, an associate professor of biomedical engineering at the University of Florida, says this approach is impressive because it tackles all aspects of the problem of islet cell delivery, including finding a source of cells, preventing an immune response, and developing a suitable delivery material. “It’s such a complex, multipronged problem that it’s important to get people from different disciplines to address it,” says Stabler, who was not involved in the research. “This is a great first step towards a clinically relevant, cell-based therapy for Type I diabetes.” The researchers now plan to further test their new materials in nonhuman primates, with the goal of eventually performing clinical trials in diabetic patients. If successful, this approach could provide long-term blood sugar control for such patients. “Our goal is to continue to work hard to translate these promising results into a therapy that can help people,” Anderson says. “Being insulin-independent is the goal,” Vegas says. “This would be a state-of-the-art way of doing that, better than any other technology could. Cells are able to detect glucose and release insulin far better than any piece of technology we’ve been able to develop.” The researchers are also investigating why their new material works so well. They found that the best-performing materials were all modified with molecules containing a triazole group — a ring containing two carbon atoms and three nitrogen atoms. They suspect this class of molecules may interfere with the immune system’s ability to recognize the material as foreign. The work was supported, in part, by the JDRF, the Leona M. and Harry B. Helmsley Charitable Trust, the National Institutes of Health, and the Tayebati Family Foundation. Other authors of the papers include MIT postdoc Joshua Doloff; former MIT postdocs Minglin Ma and Kaitlin Bratlie; MIT graduate students Hok Hei Tam and Andrew Bader; Jeffrey Millman, an associate professor at Washington University School of Medicine; Mads Gürtler, a former Harvard graduate student; Matt Bochenek, a graduate student at the University of Illinois at Chicago; Dale Greiner, a professor of medicine at the University of Massachusetts Medical School; Jose Oberholzer, an associate professor at the University of Illinois at Chicago; and Gordon Weir, a professor of medicine at the Joslin Diabetes Center.


Khan F.S.,Children Hospital
JPMA. The Journal of the Pakistan Medical Association | Year: 2012

To assess the clinical profiles and determine the frequency of different aetiologies of pancytopenia based on bone marrow examination. This is a retrospective study conducted over a 15 month period and included 279 pancytopenic children of both sexes from 1 month to 16 years of age, who underwent bone marrow biopsy. Patients on cancer therapy or on immunosuppressive treatment and already diagnosed cases of aplastic anaemia were not included in the study. Clinical profiles and bone marrow morphology findings of the patients were reviewed. Acute leukaemia was the commonest aetiology 32.2% followed by Aplastic anaemia 30.8%, Megaloblastic anaemia 13.2% and miscellaneous aetiologies. Clinical presentation being pallor (81%), fever (68%), petechial haemorrhages (51%) bleeding manifestations (21.5%) and other features included hepatomegaly (44.8%), splenomegaly (37.2%) and lymphadenopathy (22.5%). Attempts should be made to establish the aetiology of pancytopenia without delay. Easily treatable causes if identified early can have a positive impact on mortality and morbidity of pancytopenic children.


Strzelecka J.,Children Hospital
Research in Autism Spectrum Disorders | Year: 2014

An important factor in the diagnosis and treatment of Autism spectrum disorder (ASD) is prescribed Electroencephalography (EEG). EEG changes may show the following: slowing, asymmetry, sharp waves or spikes, sharp and slow waves, generalized sharp and slow waves, or generalized polyspikes in a distributed or general area, multifocal or focal, unilateral or bilateral, and they may be located in many different areas of the brain. There is a need to look for a EEG phenotype typical of patients with ASD. The importance of gamma waves, rhythm mu, mirror neurons, and their role in patients with ASD was discussed. Epilepsy is reported to occur in one third of ASD patients. In ASD, seizures and EEG paroxysmal abnormalities could represent an epiphenomenon of a cerebral dysfunction independent of apparent lesions. This article reviews ASD and EEG abnormalities and discusses the interaction between epileptiform abnormalities and cognitive dysfunction. © 2013 Elsevier Ltd. All rights reserved.


Mallick M.S.,Children Hospital
African Journal of Paediatric Surgery | Year: 2014

Background: Foreign body aspiration (FBA) is a common cause of respiratory compromise in early childhood. The objective of this study was to describe the features and outcomes of children with FBA in early and late presentations and to examine the reasons for the delay in diagnosis. Patients and Methods: This is a retrospective review of all children who were admitted with suspected FBA between July 2001 and June 2010. Patient's characteristics, history, clinical, radiographic, bronchoscopic findings, reason for delay presentation, and complications were noted. Results: A total of 158 children admitted to the hospital with suspected FBA were included in this study. The average age was 3.28 years. Forty-eight (30.3%) children were presented late (more than 14 days after FBA) and 110 (69.7%) children were presented early (0-14 days). The common clinical manifestations of FBA were persistent cough (100%) and choking (72%). The most frequent radiological finding observed was air trapping (40%) followed by atelectasis (14%). Chest radiographs were normal in 32.2% patients. Ten children in early diagnosis group and 29 children in late diagnosis group presented with complications. The diagnosis delay was mainly attributed to physician misdiagnosis (41.6%). Rigid bronchoscopy was performed in all patients. Foreign body was found in all of the cases except six. Watermelon seeds and peanuts accounted for 80% of the aspiration. Conclusion: FBA is difficult to diagnose in children. Delay in diagnosis appears to result from a failure to give serious consideration to the diagnosis. Early diagnosis and removal of foreign bodies must be achieved to avoid complications. © 2014 African Journal of Paediatric Surgery. All rights reserved.


Sales de Gauzy J.,Children Hospital
Orthopaedics and Traumatology: Surgery and Research | Year: 2010

The objectives of pelvic osteotomies are to improve femoral head coverage and coxofemoral joint stability. The most currently used osteotomies can be divided into reorientation osteotomies (Salter and Pol le Cœur triple osteotomy) and acetabuloplasties (Pemberton and Dega). All these osteotomies share an identical installation on the table and bikini-type incision. The Salter osteotomy uses a single osteotomy line located at the inferior gluteal line. The Pol Le Cœur triple pelvic osteotomy combines innominate osteotomies of the iliopubic and ischiopubic rami via a genitofemoral approach (inguinal). In these two reorientation osteotomies, the acetabulum tilts in retroversion, improving the anterior and lateral coverage but reducing the posterior coverage. In the Pemberton acetabuloplasty, the osteotomy line is incomplete. It begins anteriorly between the iliac spines and ends posteriorly immediately above the triradiate cartilage. The posterior part of the ilium remains intact. The Pemberton acetabuloplasty causes retroversion and plicature of the acetabulum responsible for reducing its diameter. Anterior and lateral coverage of the femoral head is improved and posterior coverage remains unchanged. In the Dega acetabuloplasty, the osteotomy line is incomplete. It begins laterally above the acetabulum and terminates just above the triradiate cartilage. The medial part of the ilium remains intact. The Dega acetabuloplasty reduces the diameter of the acetabulum and improves overall femoral head coverage (anterior, lateral, and posterior). © 2010 Elsevier Masson SAS.


De Filippis B.,Instituto Superiore Of Sanita | Romano E.,Instituto Superiore Of Sanita | Romano E.,Children Hospital | Laviola G.,Instituto Superiore Of Sanita
Neuroscience and Biobehavioral Reviews | Year: 2014

Rho GTPases are key intracellular signaling molecules that coordinate dynamic changes in the actin cytoskeleton, thereby stimulating a variety of processes, including morphogenesis, migration, neuronal development, cell division and adhesion. Deviations from normal Rho GTPases activation state have been proposed to disrupt cognition and synaptic plasticity. This review focuses on the functional consequences of genetic ablation of upstream and downstream Rho GTPases molecules on cognitive function and neuronal morphology and connectivity. Available information on this issue is described and compared to that gained from mice carrying mutations in the most studied Rho GTPases and from pharmacological in vivo studies in which brain Rho GTPases signaling was modulated. Results from reviewed literature provide definitive evidence of a compelling link between Rho GTPases signaling and cognitive function, thus supporting the notion that Rho GTPases and their downstream effectors may represent important therapeutic targets for disorders associated with cognitive dysfunction. © 2014 Elsevier Ltd.


Alaqeel A.A.,Children Hospital
Pan African Medical Journal | Year: 2014

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation. © Aqeel Abdullah Alaqeel et al.

Loading Children Hospital collaborators
Loading Children Hospital collaborators