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5,886 Possible Causes for Lethal

  • Skeletal Dysplasia

    Abstract We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs.[ncbi.nlm.nih.gov] Abstract We report two brothers with a new type of lethal, micromelic, short-rib, skeletal dysplasia characterised by short limbs with distinctive triangular-shaped humeri[ncbi.nlm.nih.gov] Abstract We report a male infant with a lethal short limb Skeletal Dysplasia, born in a District Hospital in the South of Portugal.[ncbi.nlm.nih.gov]

  • Junctional Epidermolysis Bullosa

    OBJECTIVE: To investigate the molecular basis of a novel PA-JEB lethal case.[ncbi.nlm.nih.gov] The clinical picture comprises severe subtypes with lethal outcome in the first years of life as well as milder subtypes with localised blistering or minimal symptoms confined[ncbi.nlm.nih.gov] Abstract In this study we examined two unrelated patients affected with the lethal variant of junctional epidermolysis bullosa with pyloric atresia (PA-JEB) who were found[ncbi.nlm.nih.gov]

  • Alveolar Capillary Dysplasia

    Donn Pages 110 - 114 ( 5 ) Abstract: Alveolar capillary dysplasia (ACD) is a recently recognized lethal lung malformation.[currentrespiratorymedicinereviews.com] Here we report on the identification of a pericentric inversion on chromosome 16 (p11.2q24.1) in a case of lethal ACDMPV with atrioventricular septal defect and duodenal atresia[ncbi.nlm.nih.gov] […] the identification of a 1.37 Mb de novo deletion of chromosome 16q24.1-q24.2 by microarray-based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal[ncbi.nlm.nih.gov]

  • Amish Lethal Microcephaly

    Amish Lethal Microcephaly. 2003 Sep 4 [updated 2011 Jun 16].[ghr.nlm.nih.gov] However, during otherwise simple viral illnesses, the infants often develop a metabolic acidosis, which may follow a lethal course.[ncbi.nlm.nih.gov] Femur length for microcephaly including amish lethal. Joomla- caused by microcephaly. Prematurely, and. Remark generif mitochondria.[mycellcare.com]

  • Fibrochondrogenesis

    Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long-bone metaphyses, pear-shaped vertebral[ncbi.nlm.nih.gov] Abstract Fibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long‐bone metaphyses, pear‐shaped[dx.doi.org] Beena Kumar, Peter Kannu, Ravi Savarirayan and Yuen Chan, Lethal metatropic dysplasia: a case report, Pathology, 39, 1, (177), (2007). M. L. Kulkarni, Prakash S.[dx.doi.org]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Lethal multiple pterygium syndrome with fusion of vertebral bodies. Lethal multiple pterygium syndrome with congenital bony fusions.[fetalultrasound.com] Lethal multiple pterygium syndrome.[jfmpc.com] The LMPS should be distinguished from the lethal popliteal pterygium (Bartsocas Papas) syndrome, where pterygium are limited to the popliteal region and lethal multiple, from[orpha.net]

  • Boomerang Dysplasia

    Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias.[ncbi.nlm.nih.gov] Abstract The authors report a case of lethal neonatal dwarfism characterized by striking micromelia, fused rudimentary and supernumerary digits, large, soft head, pronounced[ncbi.nlm.nih.gov] Abstract Atelosteogenesis I (AT‐I) and Boomerang dysplasia have been described as separate lethal bone dysplasias.[doi.org]

  • Malignant Catatonia

    Furthermore, lethal catatonia is a syndrome rather than a specific disease and may develop in association with both functional and organic illnesses.[ncbi.nlm.nih.gov] Abstract Neuroleptic malignant syndrome and lethal catatonia are potentially lifethreatening diseases with similar clinical features, including fever, akinesia and rigidity[onlinelibrary.wiley.com] The present review supports earlier reports that neuroleptics are frequently lethal in some patients with malignant catatonia.[ncbi.nlm.nih.gov]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    This mechanism, therefore, appears inadequate to explain lethal arrhythmias in patients harboring RyR2 channels destabilized by loss-of-function mutations.[ncbi.nlm.nih.gov] Abstract Catecholaminergic polymorphic ventricular tachycardia is a potentially lethal disease characterized by adrenergically mediated ventricular arrhythmias manifested[ncbi.nlm.nih.gov] CONCLUSION: Due to its potential lethal outcome, exclusion or confirmation of catecholaminergic polymorphic ventricular tachycardia in children with physical and emotional[ncbi.nlm.nih.gov]

  • Meckel-Gruber Syndrome

    Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature .[pediatricneurosciences.com] From Wikidata Jump to navigation Jump to search a rare, lethal, ciliopathic, genetic disorder with malformations of the urinary system, of central nervous system, hepatic[wikidata.org] CONCLUSION: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia.[ncbi.nlm.nih.gov]

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