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

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.

Congenital Lower Lip Pits (Van der Woude Syndrome): Report of a Case

2006 ◽  
Vol 7 (1) ◽  
pp. 134-140 ◽  
Author(s):  
Zuhal Kirzioğlu ◽  
Münciye Semra Özay Ertürk
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Dental Treatment ◽  
Surgical Removal ◽  
Supernumerary Tooth ◽  
Autosomal Dominant Disorder ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Syndrome Report

Abstract Van der Woude syndrome (VWS) is a rare autosomal dominant disorder that is characterized by a cleft lip and palate with congenital lip pits. This is a report of a case of VWS with sinuses in the lower lip, a cleft in the upper lip, and a supernumerary tooth in the maxilla. The main characteristics of this disorder are discussed. Dental treatment of the patient was performed, but the surgical removal of the sinus was rejected by the parents. This case report brings this condition to the attention of dentists and surgeons and emphasizes lip pits may not always be identical in appearance. Citation Kirzioğlu Z, Ertürk MSÖ. Congenital Lower Lip Pits (Van der Woude Syndrome): Report of a Case. J Contemp Dent Pract 2006 February;(7)1:134-140.

scholarly journals Autosomal Dominant Nonsyndromic Cleft Lip and Palate: Significant Evidence of Linkage at 18q21.1

2007 ◽  
Vol 81 (1) ◽  
pp. 180-188 ◽  
Author(s):  
Soraya Beiraghi ◽  
Swapan K. Nath ◽  
Matthew Gaines ◽  
Desh D. Mandhyan ◽  
David Hutchings ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Significant Evidence

Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

2007 ◽  
Vol 44 (3) ◽  
pp. 335-339 ◽  
Author(s):  
David S. Cabiling ◽  
Albert C. Yan ◽  
Donna M. McDonald-McGinn ◽  
Elaine H. Zackai ◽  
Richard E. Kirschner
Keyword(s):  
Wound Healing ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Autosomal Dominant Disorder ◽  
Palate Repair ◽  
Wells Syndrome

Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome. To date, there have been no reports to document wound healing after cleft lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature. There have been no reported instances of wound healing complications in affected patients. Seventeen percent (3/18) of reported patients required revisions or repair of oronasal fistulae. Cleft lip and palate repair can be performed safely in patients with Hay-Wells syndrome.

scholarly journals The Rieger Syndrome: a Case Report with Unusual Dental Findings

2018 ◽  
Vol 22 (1) ◽  
pp. 53-56
Author(s):  
Smaragda Kavadia ◽  
Konstantinos Antoniades ◽  
Eleni Markovitsi ◽  
Eleftherios G. Kaklamanos
Keyword(s):  
Case Report ◽  
Anterior Chamber ◽  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Open Bite ◽  
Rieger Syndrome ◽  
Bilateral Cleft Lip

SummaryBackground/Aim: The Rieger syndrome is a rare, autosomal dominant and phenotypically variable disorder, characterized by abnormalities of the anterior chamber of the eye, coincident with missing or misshapen teeth. Case report: This report features a case of the Rieger syndrome associated with bilateral cleft lip and palate and a severe open bite, findings not usually reported in association with this condition. Conclusions: The findings described in the present case of Rieger syndrome are unusual and expand the spectrum of manifestations of the condition.

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