Cleft Lip and Palate: The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate. An autosomal dominant condition

1977 ◽  
Vol 60 (3) ◽  
pp. 482
Author(s):  
R J Hay ◽  
R S Wells
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Autosomal Dominant Condition ◽  
Dominant Condition

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.

Prenatal diagnosis and management of Van der Woude syndrome

2016 ◽  
Vol 5 (1) ◽  
pp. 61-63
Author(s):  
Karla Ferreres García ◽  
Beatriz Berenguer ◽  
Luis Ortiz Quintana ◽  
Elena De Tomás Vicente ◽  
Ricardo Fernández Pérez-Pacheco ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Ultrasound Examination ◽  
Craniofacial Anomalies ◽  
Dominant Inheritance ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Postnatal Diagnosis ◽  
Variable Penetrance

Abstract We report the postnatal diagnosis of Van der Woude syndrome (VWS) in a foetus found to have an isolated right cleft lip and palate by ultrasound examination. After prenatal genetic counselling, the parents declined further evaluation by amniocentesis. At delivery, the infant was also found to have labial pits in the lower lip in addition to the cleft lip and palate identified by ultrasound consistent with VWS. Although VWS is rare, its autosomal dominant inheritance and variable penetrance should prompt additional modalities to more thoroughly evaluate the extent of other organ system and more extensive craniofacial anomalies.

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

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.

Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3

1992 ◽  
Vol 1 (2) ◽  
pp. 89???98 ◽  
Author(s):  
D. DONNAI ◽  
L. J. HEATHER ◽  
P. SINCLAIR ◽  
Y. THAKKER ◽  
P. J. SCAMBLER ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate
Sign in / Sign up

Export Citation Format

Share Document