Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity

2008 ◽  
Vol 38 (5) ◽  
pp. 321-326 ◽  
Author(s):  
M. Genuardi ◽  
M. Zollino ◽  
A. Bellussi ◽  
W. Fuhrmann ◽  
G. Neri
2006 ◽  
Vol 43 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Antonio Richieri-Costa ◽  
Lucilene Arilho Ribeiro

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.


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

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell

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.


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 ◽  
...  

Author(s):  
Sinead Lally ◽  
Nicola Walsh ◽  
Janna Kenny ◽  
Orla Franklin ◽  
Melanie Cotter ◽  
...  

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.


1999 ◽  
Vol 113 (9) ◽  
pp. 841-843 ◽  
Author(s):  
George A. Worley ◽  
Archana Vats ◽  
Jonathan Harcourt ◽  
David M. Albert

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.


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