scholarly journals Fontaine Progeroid Syndrome -- A Case Report

2021 ◽  
Author(s):  
Sinead Lally ◽  
Nicola Walsh ◽  
Janna Kenny ◽  
Orla Franklin ◽  
Melanie Cotter ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Clinical Course ◽  
Chromosome 1 ◽  
Progeroid Syndrome ◽  
Autosomal Dominant Condition ◽  
Pathogenic Variants ◽  
Dominant Condition ◽  
Early Lethality

Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.

Macrostomia, Preauricular Tags, and External Ophthalmoplegia: A New Autosomal Dominant Syndrome within the Oculoauriculovertebral Spectrum?

2006 ◽  
Vol 43 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Antonio Richieri-Costa ◽  
Lucilene Arilho Ribeiro
Keyword(s):  
Embryonic Development ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Branchial Arch ◽  
Early Embryonic Development ◽  
Bilateral Ptosis ◽  
First Report ◽  
Autosomal Dominant Condition ◽  
Oculoauriculovertebral Spectrum ◽  
Dominant Condition

Objective First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. Conclusion Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.

Thanatophoric dysplasia: An autosomal dominant condition?

1988 ◽  
Vol 31 (4) ◽  
pp. 815-820 ◽  
Author(s):  
M. L. Martínez-Frías ◽  
M. A. Ramos-Arroyo ◽  
J. Salvador ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Autosomal Dominant ◽  
Thanatophoric Dysplasia ◽  
Autosomal Dominant Condition ◽  
Dominant Condition

Cowden’s disease: a rare cause of oral papillomatosis

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell
Keyword(s):  
Gastrointestinal Tract ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Past History ◽  
Breast Malignancy ◽  
Autosomal Dominant Condition ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
History Of ◽  
Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

scholarly journals A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q

2011 ◽  
Vol 19 (7) ◽  
pp. 820-826 ◽  
Author(s):  
Judith B A van de Meerakker ◽  
Klaartje van Engelen ◽  
Inge B Mathijssen ◽  
Ronald H Lekanne dit Deprez ◽  
Jan Lam ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Autosomal Dominant ◽  
Heart Defects ◽  
Autosomal Dominant Condition ◽  
Chromosome 9Q ◽  
Dominant Condition ◽  
Atrial Rhythm

Bilateral congenital cholesteatoma in branchio-oto-renal syndrome

1999 ◽  
Vol 113 (9) ◽  
pp. 841-843 ◽  
Author(s):  
George A. Worley ◽  
Archana Vats ◽  
Jonathan Harcourt ◽  
David M. Albert
Keyword(s):  
Hearing Loss ◽  
Autosomal Dominant ◽  
Ossicular Chain ◽  
Branchial Arch ◽  
Congenital Cholesteatoma ◽  
Autosomal Dominant Condition ◽  
Dominant Condition

AbstractBranchio-oto-renal syndrome is a rare autosomal dominant condition characterized by hearing loss, branchial arch abnormalities and renal tract malformations. We present the first reported case of branchio-oto-renal syndrome associated with bilateral congenital cholesteatoma and ossicular chain abnormalities. The pathogenesis of this syndrome is described and the literature is reviewed.

scholarly journals Neurofibromatosis revisited: A pictorial review

2010 ◽  
Vol 14 (1) ◽  
pp. 16
Author(s):  
Nausheen Khan ◽  
Irma Van de Werke ◽  
Farzanah Ismail
Keyword(s):  
Gender Bias ◽  
Autosomal Dominant ◽  
Spontaneous Mutations ◽  
Von Recklinghausen Disease ◽  
Autosomal Dominant Condition ◽  
Pictorial Review ◽  
Recklinghausen Disease ◽  
Dominant Condition ◽  
Von Recklinghausen ◽  
Hereditary Condition

Neurofibromatosis (or von Recklinghausen disease) is a hereditary condition due to mesodermal and neuroectodermal dysplasia, eponymously named after the researcher who reported it in 1882. The disorder is transmitted as an autosomal dominant condition, but 50% of cases arise as spontaneous mutations. The incidence falls within the range 1:2 000 - 1:4 000, and has no gender bias. We present a series of images produced by different modalities that show lesions and pathologies that are characteristic of the disease.

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