Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6138
Abstract: Raine syndrome is an autosomal recessive disorder characterized mainly by the presence of exophthalmos, choanal atresia or stenosis, osteosclerosis, and cerebral calcifications. There are around 50 cases described in the literature with a prevalence of… read more here.
Keywords: novel mutation; raine syndrome; mutation review; syndrome report ... See more keywords
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2020.116819
Abstract: BACKGROUND Pathogenic variants of the ARID1B gene are recognized as the most common cause of Coffin-Siris syndrome (CSS) and also one of the most common causes for intellectual disability (ID). Reported ARID1B variants in association… read more here.
Keywords: report five; coffin siris; syndrome report; arid1b gene ... See more keywords
Pierpont syndrome: report of a new patient
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000184
Abstract: Pierpont syndrome (OMIM #602342) is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. A specific mutation in TBL1XR1 [c.1337A>G; p.(Tyr446Cys)] has been described… read more here.
Keywords: report new; syndrome report; pierpont syndrome; new patient ... See more keywords
Ophthalmologic Manifestations of Wolfram Syndrome: Report of 14 Cases
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmologica"
DOI: 10.1159/000490535
Abstract: Purpose: The aim of this study was to describe ophthalmological abnormalities in 14 cases of Wolfram syndrome belonging to 9 different families. Methods: Patients were submitted to a complete ophthalmological, neurological, otorhinolaryngological, urological, and genetic… read more here.
Keywords: report cases; manifestations wolfram; wolfram syndrome; ophthalmologic manifestations ... See more keywords
Hajdu-Cheney Syndrome: Report of a Case in Spain
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12030566
Abstract: This paper describes the case of a 54-year-old woman diagnosed with Hajdu–Cheney syndrome, who presents with characteristic craniofacial dysmorphia, short stature, premature loss of teeth, developmental skeletal disorders, fibrocystic mastopathy, bilateral hearing loss and an… read more here.
Keywords: hajdu cheney; cheney syndrome; report case; case ... See more keywords
[Alport syndrome. Report of two cases].
Sign Up to like & getrecommendations! Published in 2019 at "Revista medica de Chile"
DOI: 10.4067/s0034-98872019000400522
Abstract: Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. We report two men with Alport syndrome. Both had chronic kidney disease and consulted… read more here.
Keywords: alport syndrome; two cases; syndrome report; report two ... See more keywords
Shoshin syndrome: report of a treatable disaster
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Acute Disease"
DOI: 10.4103/2221-6189.254431
Abstract: Shoshin syndrome is a rare fulminating heart failure caused by thiamine deficiency. In Japanese “sho” means acute damage and “shin” means heart. It consists of a rare and hyperacute manifestation of beriberi that was first… read more here.
Keywords: shoshin syndrome; report; syndrome report; treatable disaster ... See more keywords
Bidet nail syndrome: report of a typical case.
Sign Up to like & getrecommendations! Published in 2017 at "Dermatology online journal"
DOI: 10.5070/d3234034651
Abstract: Worn-down nail syndrome is a nail disorder characterized by thinning of the distal nail plate induced by repetitive mechanical trauma. A French variant, entitled "bidet nail syndrome" was first described by Baran. read more here.
Keywords: dermatology; report typical; nail syndrome; bidet nail ... See more keywords