Raine Syndrome, a Rare Lethal Osteosclerotic Bone Dysplasia: Prenatal Diagnosis With 3‐Dimensional Ultrasound and a Postnatal Clinical Exome Evaluation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Ultrasound in Medicine"
DOI: 10.1002/jum.15426
Abstract: Raine syndrome (RS) is a rare autosomal recessive osteosclerotic bone dysplasia (Online Mendelian Inheritance in Man 259775) with an estimated prevalence of less than 1 per 1,000,000 and was first reported by Raine et al… read more here.
Keywords: syndrome rare; raine syndrome; bone; dimensional ultrasound ... See more keywords
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1825
Abstract: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. read more here.
Keywords: rahman syndrome; spectrum rahman; mutational spectrum; syndrome ... See more keywords
[Insulin autoimmune syndrome : A rare, but important differential diagnosis of hypoglycemia].
Sign Up to like & getrecommendations! Published in 2021 at "Der Internist"
DOI: 10.1007/s00108-021-01180-0
Abstract: A 69-year-old female patient was referred to the Medical University of Hanover for further diagnostic evaluation of recurrent severe hypoglycemia. The patient had previously been started on clopidogrel after arterial stenting for peripheral arterial obstructive disease… read more here.
Keywords: insulin; syndrome rare; rare important; autoimmune syndrome ... See more keywords
Axenfeld–Rieger Syndrome: Rare Case Presentation and Overview
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Maxillofacial and Oral Surgery"
DOI: 10.1007/s12663-019-01307-9
Abstract: Axenfeld–Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present a case of a 10-year-old boy. Its awareness among oral surgeons is essential for timely… read more here.
Keywords: rare case; case presentation; rieger syndrome; syndrome rare ... See more keywords
Syndrome Lymphoedème-distichiasis : un syndrome rare à ne pas méconnaître
Sign Up to like & getrecommendations! Published in 2018 at "Annales De Dermatologie Et De Venereologie"
DOI: 10.1016/j.annder.2018.03.107
Abstract: Introduction Le lymphœdeme-distichiasis est un syndrome rare de transmission autosomique dominante. Les signes constants sont le lymphœdeme et la double rangee de cils (distichiasis). D’autres anomalies systemiques peuvent y etre associees, de maniere inconstante. Nous… read more here.
Keywords: lymph deme; distichiasis; syndrome rare;
Cornelia de Lange syndrome: A rare case, presented with unilateral pes equinovarus.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical orthopaedics and trauma"
DOI: 10.1016/j.jcot.2019.04.001
Abstract: Cornelia de Lange syndrome is a genetic disorder with multiple system abnormalities. It is especially characterized by typical facial appearance and hirsutism. Growth and mental retardation, gastrointestinal, cardiovascular, and orthopedic abnormalities are other important features… read more here.
Keywords: pes equinovarus; syndrome rare; case; lange syndrome ... See more keywords
Bow hunter syndrome: A rare yet important etiology of posterior circulation stroke
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2020.04.110
Abstract: A6-year-oldgirl presented with acute-onset headache andfluctuating right-sided weakness.HerPedNIHSSwas13. Brain MRI/MRA showed acute pontine arterial ischemic stroke(AIS)and remote right cerebellar and thalamic infarcts.No antecedent trauma or other stroke risk factors were identified. Clinical suspicion of bow… read more here.
Keywords: rare yet; hunter syndrome; syndrome rare; etiology ... See more keywords
"Nutcracker syndrome - a rare but important cause of varicocele in adolescent boys".
Sign Up to like & getrecommendations! Published in 2020 at "Urology"
DOI: 10.1016/j.urology.2020.04.008
Abstract: Nutcracker syndrome is a complex of clinical symptoms due to compression of the left renal vein between abdominal aorta and superior mesenteric artery. Hematuria and pelvic or back pain are the most common presenting symptoms… read more here.
Keywords: syndrome rare; rare important; cause varicocele; important cause ... See more keywords
Kindler syndrome: a rare case report from Syria
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000503
Abstract: Kindler syndrome is a rare autosomal recessive inherited disease. The authors report a case with unique presentation that has never reported before in the medical Literatur” lanugo hair”. This is a case of a 13-year-old… read more here.
Keywords: kindler syndrome; rare case; case report; case ... See more keywords
Radius-Maumenee syndrome: a rare cause of glaucoma
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-223255
Abstract: Case presentation of a 41-year-old woman with long-standing bilateral eye injection whose clinical findings included bilateral episcleral vessel engorgement and tortuosity, raised intraocular pressure with open iridocorneal angles and left optic disc cupping. All remaining… read more here.
Keywords: syndrome rare; radius maumenee; maumenee syndrome; eye ... See more keywords
Rowell’s syndrome: a rare but distinct entity in rheumatology
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-235173
Abstract: Rowell’s syndrome is a rare disorder characterised by an association of lupus erythematosus with erythema multiforme (EM)-like skin lesions. EM as the initial clinical presentation of systemic lupus erythematosus is also atypical and even rarer.… read more here.
Keywords: rare distinct; entity rheumatology; rowell syndrome; syndrome rare ... See more keywords