scholarly journals Disability in a medieval village community: A unique case of facial dysmorphism

2021 ◽  
Vol 35 ◽  
pp. 22-28
Author(s):  
Valentin Miclon ◽  
Samuel Bédécarrats ◽  
Boris Laure ◽  
Elisabeth Zadora-Rio ◽  
Matthieu Gaultier ◽  
...  
Keyword(s):  
Facial Dysmorphism ◽  
Unique Case ◽  
Village Community

A Unique Case of Facial Dysmorphism in an Infant

NeoReviews ◽  
2018 ◽  
Vol 19 (2) ◽  
pp. e127-e129
Author(s):  
Sharmeen Samuel ◽  
Peter P. Karpawich ◽  
Andrea Scheurer-Monaghan
Keyword(s):  
Facial Dysmorphism ◽  
Unique Case

Melanosarcoma (Malignant Melanoma) of the Rectosigmoid : Report of a Unique Case

1949 ◽  
Vol 12 (1) ◽  
pp. 142-145 ◽  
Author(s):  
Moses Behrend ◽  
Albert Behrend
Keyword(s):  
Malignant Melanoma ◽  
Unique Case

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

2020 ◽  
Author(s):  
Siddaramappa J. Patil ◽  
Shruti Pande ◽  
Jyoti Matalia ◽  
Venkatraman Bhat ◽  
Minal Kekatpure ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Later Life ◽  
Facial Dysmorphism ◽  
Ocular Manifestations ◽  
Occipital Encephalocele ◽  
Knobloch Syndrome ◽  
Posterior Fossa Malformations ◽  
Midline Cleft

AbstractKnobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

An unique case of celiac disease with hypocoagulation and secondary hyperparathyreodism in elderly patient - a case report

2017 ◽  
Author(s):  
Gocha Barbakadze ◽  
Lali Tigishvili ◽  
Levan Ramishvili ◽  
Nani Tsikarishvili ◽  
Koba Burnadze
Keyword(s):  
Elderly Patient ◽  
Celiac Disease ◽  
Case Report ◽  
Unique Case

A Giant Right Coronary Artery of Diffuse Ectasia Induced by a Right Ventricular Fistula

2015 ◽  
Vol 18 (6) ◽  
pp. 253
Author(s):  
Renyuan Li ◽  
Yiming Ni ◽  
Peng Teng ◽  
Weidong Li
Keyword(s):  
Coronary Artery ◽  
Right Coronary Artery ◽  
Artery Bypass ◽  
Coronary Artery Fistula ◽  
Rare Entity ◽  
Fistula Closure ◽  
Unique Case ◽  
Coronary Ectasia ◽  
The Right ◽  
Giant Size

<p>Coronary artery fistula (CAF) is a rare entity. Sometimes it may associate with mild diffuse or segmental coronary ectasia. CAF with giant coronary artery is exceptionally rare. We present a unique case of a 49-year-old female patient with a giant right coronary artery of diffuse ectasia coexisting with a fistula draining into the right ventricle. To our best knowledge, CAF with diffuse coronary ectasia of such giant size has never been reported. The patient was treated successfully by resection of the dilated right coronary artery, fistula closure, and coronary artery bypass grafting.</p>

Pricing of IPOs: The Unique Case of Turkish REITs

2015 ◽  
Author(s):  
Isil Erol ◽  
Dogan Tirtiroglu
Keyword(s):  
Unique Case

Intestinal Heterotopic Pancreas Involved by Simultaneous PanIN-2 Lesion and Endocrine Microadenoma: a Unique Case

2017 ◽  
Vol 26 (2) ◽  
pp. 199-202
Author(s):  
Remus Cornea ◽  
Sorina Taban ◽  
Cristian Suciu ◽  
Codruta Lazureanu ◽  
Alis Dema
Keyword(s):  
Histopathological Examination ◽  
Intraepithelial Neoplasia ◽  
Heterotopic Pancreas ◽  
Pancreatic Intraepithelial Neoplasia ◽  
Unique Case ◽  
Intraductal Papillary Mucinous Neoplasms ◽  
Pancreatic Endocrine Neoplasm ◽  
First Case ◽  
Mucinous Neoplasms

We hereby present the case of a 58-year-old male who underwent a total gastrectomy for gastric neoplasm. During the surgery, a tumor mass in the jejunum was identified, considered as metastasis, and resected. The histopathological examination of the jejunal lesion showed ectopic pancreas. In this area, two pathological distinct lesions were identified, one histologically compatible with pancreatic intraepithelial neoplasia (PanIN) type 2 lesion and the other with morphologic criteria for endocrine microadenoma. To our knowledge, this is the first case that evidences the presence of a concomitant premalignant exocrine lesion and benign endocrine lesion in a heterotopic pancreas (HP).Abbreviations: HP: heterotopic pancreas; IPMN: Intraductal Papillary Mucinous Neoplasms; PanIN: Pancreatic Intraepithelial Neoplasia; PEN: pancreatic endocrine neoplasm.

Sign in / Sign up

Export Citation Format

Share Document