Results 31 to 40 of about 4,210 (197)
Journal of Nobel Medical College, 2012 Dyke-Davidoff-Masson Syndrome (DDMS) is characterized by seizures, facial asymmetry, contralateral hemiplegia and mental retardation. The characteristic radiologic features are cerebral hemiatrophy with homolateral hypertrophy of the skull and sinuses ...
Naba Raj Koirala +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger +3 more
wiley +1 more source
Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi +5 more
wiley +1 more source
Unilateral Internal Carotid Artery Hypoplasia Incidentally Found in Adult Patient
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013 Unilateral hypoplasia of the internal carotid artery, is an extremely rare conjenital anomaly. It is usually diagnosed incidentally during radiological examination for another reason.
Cenk Aypak +4 more
doaj +1 more source
Left segmental hypoplasia of liver with concomitant gallbladder agenesis
Clinical Case Reports, 2023 Key Clinical Message Congenital liver anomalies are rarely reported. To the best of our knowledge and literature review, associated gallbladder agenesis with left hepatic lobe agenesis is extremely rare.
Narendra Pandit, Durga Neupane
doaj +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
Romanian Journal of Oral Rehabilitation, 2020 Aim of the study The aim of our study was to determine and compare the prevalence and severity of acquired developmental defects of enamel (DDE) in a group of children coming from a rural area in Dolj County, Romania, aged between 3 and 19 years ...
Mihai Popescu +6 more
doaj
Complete Mouth Rehabilitation in a Patient with Fanconi Anaemia: A Rare Genetic Disorder [PDF]
Journal of Clinical and Diagnostic ResearchFanconi anaemia is a rare, progressive congenital bone marrow failure syndrome characterised by autosomal recessive inheritance and clinical manifestations, including growth retardation, bone marrow failure leading to pancytopenia, an elevated risk of ...
Maha Mahmoud +3 more
doaj +1 more source
Frontiers in Endocrinology, 2023 IntroductionMIRAGE syndrome is a rare disease characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy.
Anna Go +5 more
doaj +1 more source