A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion

2021 ◽  
Author(s):  
Noha Musa ◽  
Mohamed A. Elmonem ◽  
Christian Beetz ◽  
Mona Hafez ◽  
Mona Hassan ◽  
...  
Keyword(s):  
Case Reports ◽  
Pathogenic Variant ◽  
Familial Case

Familial SUNCT in mother and son

Cephalalgia ◽  
2016 ◽  
Vol 36 (10) ◽  
pp. 993-997 ◽  
Author(s):  
Isabel Pavão Martins ◽  
Pedro Viana ◽  
Patricia Pita Lobo
Keyword(s):  
Trigeminal Nerve ◽  
Case Reports ◽  
Heterogeneous Group ◽  
Familial Case ◽  
Trigeminal Autonomic Cephalalgias ◽  
Conjunctival Injection ◽  
Historical Account ◽  
Autonomic Symptoms ◽  
Genetic Nature

Background Trigeminal autonomic cephalalgias comprise a heterogeneous group of lateralized headaches associated with ipsilateral autonomic symptoms. They are usually localized within the territory of one or more rami of the trigeminal nerve, but may be localized outside its cutaneous territory. Although these headaches are considered primary disorders, the evidence supporting their genetic nature is lacking, particularly concerning their neuralgic forms, with the exception of a familial case described partly based on a historical account. Case reports We report on a mother and son with episodic, short-lasting, intense, paroxysmal headaches, with the same localization in the left retroauricular region, associated with prominent conjunctival injection and tearing, which are consistent with the diagnosis of SUNCT (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing). Discussion These cases corroborate the existence of hereditary forms of this disorder, thus supporting its primary nature.

EP.129A probable new pathogenic variant in RYR1 gene? - 3 case reports

2019 ◽  
Vol 29 ◽  
pp. S205
Author(s):  
M. Koch ◽  
E. Perrone ◽  
L. Silva ◽  
A. Carvalho
Keyword(s):  
Case Reports ◽  
Pathogenic Variant ◽  
Ryr1 Gene

scholarly journals Bicuspid aortic valve and aortopathy: Genetic background through 4 familial case reports

2021 ◽  
Vol 13 (1) ◽  
pp. 77
Author(s):  
H. Gérard ◽  
J.F. Avierinos ◽  
A. Theron ◽  
A.S. Simoni ◽  
G. Habib ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Genetic Background ◽  
Case Reports ◽  
Familial Case

First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Re-port

2020 ◽  
Author(s):  
Mirsajjad MOUSAVI-ASL GERMEH CHESHMEH ◽  
Ali NAJIZADEH ◽  
Saied HOSSEINI-ASL ◽  
Hooshang ZAIMKOHAN ◽  
Roshanak JAZAYERI
Keyword(s):  
Autosomal Recessive ◽  
Case Reports ◽  
Pathogenic Variant ◽  
Nail Dystrophy ◽  
First Report ◽  
Iranian Family ◽  
Northwestern Iran ◽  
Nail Dysplasia ◽  
First Time

Congenital Nail abnormalities are rare ectodermal defects. Autosomal recessive nail dysplasia is much rarer. Recently it has been recognized as a condition resulting in nail dystrophy in the absence of other cutaneous or extracutaneous disorders. Few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with Non-Syndromic Congenital Nail Dysplasia. We report a family presenting, they lived in Namin a country of the Ardabil Province, northwestern Iran in 2016, for the first time in Iran in whom we identified mutations in FZD6 with abnormal nails formation.

Familial case reports of stiff-person syndrome

2015 ◽  
Vol 126 (12) ◽  
pp. 2408-2409 ◽  
Author(s):  
Zhilong Xiao ◽  
Jian Shan ◽  
Xiaolin Huang ◽  
Min Yuan ◽  
Xueli Li ◽  
...  
Keyword(s):  
Case Reports ◽  
Familial Case ◽  
Stiff Person Syndrome

scholarly journals Bilateral Agenesis of Permanent Mandibular Central Incisors: Two Familial Case Reports

2016 ◽  
Vol 1 (1) ◽  
Author(s):  
Emre Korkut ◽  
Onur Gezgin ◽  
Sukriye Turkoglu ◽  
Yagmur Sener
Keyword(s):  
Case Reports ◽  
Familial Case

Pseudoatrophoderma colli. A familial case

1980 ◽  
Vol 116 (10) ◽  
pp. 1181-1182 ◽  
Author(s):  
Y. C. Kauh
Keyword(s):  
Familial Case
Sign in / Sign up

Export Citation Format

Share Document