نتایج جستجو برای: mandibular limb hypogenesis syndrome
تعداد نتایج: 708065 فیلتر نتایج به سال:
This study aimed to investigate tourniquet-induced compartment syndrome of the limb, consequential development multiple organ dysfunction syndrome, and its counteraction with pentadecapeptide BPC 157 therapy.
The formation of membrane bone from neural crest-derived mesenchyme of the maxillary and mandibular processes of the embryonic chick depends upon prior interactions between the mesenchyme and maxillary or mandibular epithelia. The present study explores the specificity of these interactions using tissue recombinations between heterotypic epithelia and mesenchyme. Mandibular and maxillary mesenc...
A case of rhombencephalosynapsis, a very rare disorder characterized by agenesis or hypogenesis of the cerebellar vermis and fusion of the cerebellar hemispheres, is reported with magnetic resonance imaging features. Radiographs showed anomalies in both hands; namely phalangeal hypoplasia and occult polydactyly in the right hand and syndactyly in the left, previously unreported in association w...
McNicholl, B., Egan-Mitchell, B., Murray, J. P., Doyle, J. F., Kennedy, J. D. and Crome, L. (1970). Archives of Disease in Childhood, 45, 421. Cerebrocosto-mandibular syndrome: a new familial developmental disorder. Three sibs with a hitherto unreported syndrome are described, the main features being mental handicap, palatal defects, micrognathia, and severe costovertebral defects, involving se...
BACKGROUND Corticobasal syndrome (CBS) is a complex neurodegenerative disorder associated with parkinsonism and alien limb syndrome. Dressing and ideomotor apraxia were reportedly responsive to amantadine. CASE REPORT A 79-year-old female was referred for evaluation of right hemiparesis. Neurological examination showed dementia, normal ocular movements, mild facial hypomimia, and bradykinesia...
This article reports the case of a Brazilian child diagnosed with Kabuki make-up syndrome (KMS), addressing the clinical features observed, with emphasis on the disease-specific oral and craniofacial manifestations. The patient had the distinctive KMS craniofacial appearance, mild delayed mental development, fingers with prominent fingertip pads and visual deficit. The dental findings included ...
The spliceosome is a large ribonucleoprotein complex that removes introns from pre-mRNA transcripts. Mutations in EFTUD2, encoding a component of the major spliceosome, have recently been identified as the cause of mandibulofacial dysostosis, Guion-Almeida type (MFDGA), characterized by mandibulofacial dysostosis, microcephaly, external ear malformations and intellectual disability. Mutations i...
The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertai...
INTRODUCTION Angio-osteohypotrophic syndrome is also known as Servelle-Martorell angiodysplasia. It is characterized by venous or, rarely, arterial malformations, which may result in limb hypertrophy and bony hypoplasia. Extensive involvement of the upper limb is a rare feature of Servelle-Martorell syndrome. Cases with minimal upper limb involvement have been described in the literature. CAS...
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