scholarly journals Adult Presentation of a Complete Second Branchial Cleft Fistula Diagnosed by US and CT, Autosomal Dominant Transmission in Three Members of the Family: Case Report

2020 ◽  
Vol 10 (02) ◽  
pp. 125-131
Author(s):  
Patrick Mailleux ◽  
Yorick Lismonde
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
The Family ◽  
Family Case ◽  
Branchial Cleft ◽  
Adult Presentation

scholarly journals Autosomal dominant transmission of transient neonatal lactic acidosis: a case report

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Emily B. Mardian ◽  
◽  
Matthew A. Lines ◽  
Gregory P. Moore
Keyword(s):  
Case Report ◽  
Lactic Acidosis ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission

scholarly journals Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations

2018 ◽  
Vol 10 (1) ◽  
pp. 12-17
Author(s):  
Ljuba Vujanović ◽  
Marina Jovanović ◽  
Zoran Golušin ◽  
Svetlana Kovačić Dukić ◽  
Sanja Jakovljević ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Epidermolysis Bullosa ◽  
Autosomal Dominant ◽  
Dorsal Plate ◽  
Nail Dystrophy ◽  
Three Generations ◽  
The Family ◽  
Inherited Epidermolysis Bullosa ◽  
Atrophic Scars

Abstract Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.

HLA antigens and affective disorder: a family case report

1980 ◽  
Vol 10 (4) ◽  
pp. 677-681 ◽  
Author(s):  
George Stein ◽  
Jeremy Holmes ◽  
John W. Bradford ◽  
Leslie Kennedy
Keyword(s):  
Case Report ◽  
Affective Disorder ◽  
Hla Antigens ◽  
Hla Typing ◽  
Insufficient Information ◽  
The Family ◽  
Family Case

SYNOPSISA family of 6 affectively ill siblings is described. Two suffered from bipolar illnesses, 2 from recurrent unipolar illness, and the remainder showed alcoholism, depression and schizo-affective disorder. HLA typing revealed that all the tested members shared the antigens A3 and B7. Because only ill members were available for testing, there was insufficient information in the family to draw any definite conclusion as to whether these antigens were linked to the illness. However, the observation is of some interest in the light of other recent reports which have suggested that these 2 antigens are associated with affective disorder.

Meniere's Syndrome Inherited as an Autosomal Dominant Trait

1992 ◽  
Vol 101 (7) ◽  
pp. 590-594 ◽  
Author(s):  
Carlos A. Oliveira ◽  
Ana Maria Braga
Keyword(s):  
Autosomal Dominant ◽  
Identical Twins ◽  
Dominant Trait ◽  
Close Attention ◽  
Autosomal Dominant Trait ◽  
Genetic Transmission ◽  
Autosomal Dominant Transmission ◽  
Migraine Headaches ◽  
Family Histories ◽  
The Family

Brown in 1941 reported on five families having two members with Meniere's syndrome. In 1949 she reported on three siblings (children of first cousins) and two identical twins bearing the syndrome. Bernstein in 1965 reported on seven families having two or more members afflicted by the symptoms. All these reports showed association between Meniere's syndrome and migraine headaches. None provided detailed pedigree studies in order to clarify the mode of genetic transmission. We report on a father, three daughters, and one son with typical Meniere's syndrome and paroxysmal headaches. The pedigree strongly suggests autosomal dominant transmission. After studying this family we have been paying close attention to family histories of Meniere's syndrome patients. It is not at all uncommon to hear about other members of the family with the syndrome, but it is difficult to document all of the cases for logistical reasons.

scholarly journals Touraine-Solente-Gole Syndrome. (Primary paquidermoperiostosis). Two case report

Bionatura ◽  
2020 ◽  
Vol 5 (1) ◽  
pp. 1063-1065
Author(s):  
Martha Mengana Medina ◽  
Adonis Frómeta Guerra ◽  
Eduardo Enrique Fuentes Liens ◽  
Sandra Amalia Sánchez Figueredo
Keyword(s):  
Internal Medicine ◽  
Case Report ◽  
Joint Pain ◽  
Autosomal Dominant ◽  
Clinical Report ◽  
Genetic Origin ◽  
Autosomal Dominant Transmission ◽  
Rare Syndrome ◽  
First Case ◽  
Uncommon Condition

Two cases occur in the same family (siblings) of 30 and 16 years of age with a diagnosis of primary pachydermoperiostosis or Touraine-Solente-Goulé Syndrome (TSG), an uncommon condition, characterized by pachydermia, periostosis and pachydactyly, which can be idiopathic, with onset at puberty, of genetic origin, autosomal dominant transmission. These brothers come to the internal medicine office of the Carlos Manuel de Céspedes hospital complaining of joint pain with skin and osteoarticular manifestations, consulting with the dermatology service considering the diagnosis of this rare syndrome and conducting relevant studies and after its conclusion makes the clinical report for publication because it is the first case reported in our province.

scholarly journals Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Francesco Paduano ◽  
Fernanda Fabiani ◽  
Emma Colao ◽  
Francesco Trapasso ◽  
Nicola Perrotti ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Liver Carcinoma ◽  
The Novel ◽  
Li Fraumeni Syndrome ◽  
Pathogenic Variants ◽  
Family Pedigree ◽  
The Family ◽  
Dominant Disease ◽  
Li Fraumeni

Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected by osteosarcoma, we found the novel heterozygous frameshift variant c.645del (p.Ser215Argfs*32) in the TP53 gene. This variant co-segregated with typical LFS cancers in the family pedigree, consistent with the pathogenicity of this novel and previously undescribed TP53 variant.

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

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