Results 61 to 70 of about 2,465 (212)
Síndrome Dyke Davidoff Masson Aspectos Clínico-Radiológicos: Reporte de Caso [PDF]
, 2021 Background: Dyke Davidoff Masson syndrome (DDM) is a rare entity. This syndrome has a variable clinical presentation from mild to severe cases, which is why it constitutes a diagnostic challenge at an early age and for treating personnel. However, within
Avellaneda, Luis Carlos +2 more
core +2 more sources
Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
wiley +1 more source
Adult Presentation of Dyke-Davidoff-Masson Syndrome: A Case Report
Case Reports in Neurology, 2016 Dyke-Davidoff-Masson syndrome (DDMS) is a rare disease which is clinically characterized by hemiparesis, seizures, facial asymmetry, and mental retardation.
Ujjawal Roy +3 more
doaj +1 more source
Psychoses of Epilepsy: Unravelling the Phenotypic and Genotypic Features
Annals of Neurology, Volume 98, Issue 1, Page 35-47, July 2025.Objectives We analyzed the genotypic and phenotypic features of patients with psychosis of epilepsy (POE). Methods Patients with POE recruited to an epilepsy genetics research program underwent phenotyping and genetic analysis. The latter included screening for rare pathogenic variants in epilepsy genes, and polygenic risk score (PRS) calculation for ...
Genevieve Rayner +4 more
wiley +1 more source
A review of pediatric cerebral hemiatrophy: a series of cases
MGM Journal of Medical SciencesCerebral hemiatrophy represents a spectrum of neurological disorders marked by unilateral cerebral atrophy, often resulting in significant neurological and functional impairments.
Sumedha Varshney +5 more
doaj +1 more source
Facial hemihypertrophy and facial hemiatrophy: Report of 2 cases
Journal of Indian Academy of Oral Medicine and Radiology, 2008 Facial hemihypertrophy and facial hemiatrophy are rare developmental anomalies. These conditions are characterized by an asymmetric growth of one or more parts of the tissues on one side of the face. The facial asymmetry may be total or partial.
Atul Indurkar +2 more
doaj +1 more source
Localized Abdominal Idiopathic Lipodystrophy [PDF]
, 2008 Localized loss of subcutaneous tissue can occur after panniculitis, injections of corticosteroids and other drugs, or associated with infectious, autoimmune or neurologic diseases.
Feio, A, Serrão, V
core +1 more source
Dysmorphometrics: the modelling of morphological abnormalities [PDF]
, 2012 BACKGROUND: The study of typical morphological variations using quantitative, morphometric descriptors has always interested biologists in general. However, unusual examples of form, such as abnormalities are often encountered in biomedical sciences ...
Dirk Vandermeulen +5 more
core +2 more sources
Hemiparkinsonism-Somatic Hemiatrophy Syndrome [PDF]
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2002 Abstract:Purpose:This paper highlights the hemiparkinsonism-hemiatrophy (HPHA) syndrome as a unique presentation of the parkinsonian state. Clinically relevant diagnostic and treatment aspects are reviewed.Method:We report a case of HPHA, in a 21-year-old, otherwise healthy, woman. Clinical and radiographic features of our case are presented.
Mary, Jenkins +3 more
openaire +2 more sources
Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: A European consensus statement [PDF]
, 2017 Rasmussen encephalitis (RE) is a rare but severe immune-mediated brain disorder leading to unilateral hemispheric atrophy, associated progressive neurological dysfunction and intractable seizures.
Antozzi, C. +10 more
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