malocclusion/crise epiléptica

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Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome.

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We report on two sibs, brother and sister, with a multiple congenital anomaly/mental retardation syndrome consisting of severe growth and mental retardation, seizures, retinal abnormalities, osteodysplasia, brachydactyly, prognathism, and dental malocclusion. These clinical findings were present in

Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study.

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Objectives

Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion

Unusual presentation of local anesthetic toxicity.

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The local anesthetic systemic toxicity can be due to increased blood lignocaine levels or due to increased sensitivity to lignocaine. Several cases of lignocaine-induced central nervous system toxicity have been noted, but none have reported only loss of consciousness without any seizure-like

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

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Pallister-Killian syndrome (PKS) is a rare sporadic multi-systemic developmental disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. A wide range of clinical characteristics including intellectual disability, seizures, and congenital malformations has previously been described.

GeneReviews®

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Au-Kline syndrome is characterized by developmental delay and hypotonia with moderate-to-severe intellectual disability, and typical facial features that include long palpebral fissures, ptosis, shallow orbits, large and deeply grooved tongue, broad nose with a wide nasal bridge, and

Oral and dental manifestations of vitamin D-dependent rickets type I: report of a pediatric case.

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Vitamin D-dependent rickets type I (VDDRI) represents an autosomal recessive hereditary defect in vitamin D metabolism. Patients with VDDRI have mutations of chromosome 12 that affect the gene for the enzyme 1-alpha-hydroxylase, resulting in decreased levels of 1,25(OH)(2) vitamin D. Clinical

[Ten years of clinical experience with clozapine about 170 patients].

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The authors describe a clinical trial of 170 patients who received clozapine over a ten year period between September 1989 and September 1999. It is a retrospective study, describing individual responses. Each patient was his own control before and with treatment. The study also compared individuals

THOC6 Intellectual Disability Syndrome

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Clinical characteristics: THOC6 intellectual disability syndrome is associated with moderate-to-severe developmental delay or intellectual disability; nonspecific dysmorphic facial features (tall forehead, deep-set eyes, short and

Extraction as a treatment alternative follows repeated trauma in a severely handicapped patient.

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Handicapped patients with protruding maxillary incisors are prone to repeated dental trauma. A 13-year-old girl with cerebral palsy, severe mental retardation and seizure disorder was referred to our department for restoring the traumatized anterior teeth. Despite drug combination, the frequency of

Occluso-facial manifestations in a child with the Rasmussen syndrome and intercurrent Lyme disease--a case report.

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The Rasmussen Syndrome (RS) is a rare neurological disease, usually diagnosed in the 1st decade of life, leading to damage of the central nervous system. It is characterised by sudden seizures in previously healthy children. In this paper we present a case of a 14-year-old female patient with

Constitutional Mosaic Trisomy 13 in Two Germ Cell Layers is Different from Patau Syndrome? A Case Report.

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The heterogeneous phenotype of known syndromes is a clinical challenge, and harmonized description using globally accepted ontology is desirable. This report attempts phenotypic analysis in a patient of constitutional mosaic trisomy 13 in mesoderm and ectoderm to make globally comparable clinical

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