scholarly journals Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature

2019 ◽  
Vol 12 (9) ◽  
pp. e229938 ◽  
Author(s):  
Dilharan D Eliezer ◽  
Himanshu Goel ◽  
Virginia M Turner ◽  
Aniruddh Deshpande
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Treatment Options ◽  
Testicular Descent ◽  
Van Der Woude Syndrome ◽  
Phenotypic Feature ◽  
Midline Defects ◽  
Popliteal Pterygium Syndrome ◽  
Testicular Thermoregulation ◽  
Popliteal Pterygium

Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

scholarly journals Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)

2016 ◽  
Vol 2 (1) ◽  
pp. 33-43
Author(s):  
N. Mariappan ◽  
Keyword(s):  
Genetic Counseling ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Dental Treatment ◽  
Molecular Genetic ◽  
Optimal Time ◽  
Lower Lip ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Background: IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. Popliteal pterygia are found in popliteal pterygium syndrome, multiple pterygium syndrome and Arthrogryposis. The popliteal pterygium syndrome is a rare congenital condition, in which the patient has facial, genitourinary and skeletal anomalies along with popliteal pterygium. Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformation disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. AD-PPS is associated with mutations in the IRF6 gene (1q32.2-q32.3), involved in the formation of connective and epithelial tissues. Almost all affected patients harbor mutations in this gene. The word ‘pterygium’ is derived from the Greek word pterygion, which means wing. Pathologically it denotes a wing-like abnormal band of tissue. The most obvious characteristics of this syndrome are popliteal pterygium and a triangular crease of skin over the hallux. The orofacial findings include cleft lip, cleft palate, lower lip pits, a few missing teeth, and severely decayed teeth. The dental problems are overshadowed by the major syndromic manifestations. These patients have special dental needs and early preventive dental care and appropriate dental treatment at the optimal time is important. Diagnosis of pterygium syndrome is based on the clinical findings and confirmed by molecular genetic testing. AD-PPS is highly associated with missense mutations that alter residues that are predicted to interact directly with DNA in exons 3 and 4 of IRF6. Conclusion: An understanding of the molecular genetic basis of this syndrome is essential for prenatal diagnosis and also for genetic counseling of the parents. Keywords: Popliteal pterygium syndrome, Escobar syndrome, Magnetic resonance imaging, Congenital contractures, Genetic counseling.

Management of Speech and Swallowing Disorders in Children with Oral Clefts

2019 ◽  
Author(s):  
Ravi K. Garg ◽  
Delora L Mount
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Speech Therapy ◽  
Cleft Lip And Palate ◽  
Treatment Options ◽  
Posterior Pharyngeal Wall ◽  
Diagnostic Tools ◽  
Pharyngeal Wall ◽  
Pharyngeal Flap ◽  
Sphincter Pharyngoplasty

Cleft lip and palate are common congenital anomalies with significant implications for feeding, swallowing, and speech. If a cleft palate goes unrepaired, a child will have difficulty distinguishing nasal and oral sounds. Even following cleft palate repair, approximately 20 to 30% of nonsyndromic children have persistent hypernasal speech. This often occurs due to velopharyngeal dysfunction (VPD), a term describing failure of the soft palate and pharyngeal walls to seal the nasopharynx from the oropharynx during oral consonant production. The gold standard for diagnosis is perceptual examination by a trained speech pathologist, although additional diagnostic tools such as nasendoscopy are often used. Treatment options for VPD range from speech therapy to revision palatoplasty, sphincter pharyngoplasty, pharyngeal flap, and pharyngeal wall augmentation. Palatal prosthetics may also be considered for children who are not surgical candidates. Further research is needed to improve selection of diagnostic and treatment interventions and optimize speech outcomes for children with a history of oral cleft. This review contains 1 figure, 3 videos, and 58 references.  Key words: Cleft lip and palate, hypernasal resonance, levator veli palatine, nasal emission, nasendoscopy, palatoplasty, pharyngeal flap, posterior pharyngeal wall augmentation, sphincter pharyngoplasty, velopharyngeal dysfunction

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.

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

2009 ◽  
Vol 18 (4) ◽  
pp. 225-227 ◽  
Author(s):  
Arjan C. Houweling ◽  
Johan J.P. Gille ◽  
Jacques A. Baart ◽  
Johanna M. van Hagen ◽  
Augusta M. Lachmeijer
Keyword(s):  
Genetic Counseling ◽  
Van Der Woude Syndrome ◽  
Phenotypic Manifestation ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

scholarly journals Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

2012 ◽  
Vol 15 (5) ◽  
pp. 338-344 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jennifer Standley ◽  
John Compton ◽  
Sherri Bale ◽  
Brian C. Schutte ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Van Der Woude Syndrome ◽  
Whole Exome ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

POPLITEAL PTERYGIUM SYNDROME

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 503-509
Author(s):  
Robert J. Gorlin ◽  
Heddie O. Sedano ◽  
J. Cervenka
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Free Edge ◽  
Autosomal Dominant Trait ◽  
Popliteal Pterygium Syndrome ◽  
Cleft Lip Palate ◽  
Affected Parent ◽  
Genitourinary Anomalies ◽  
Popliteal Pterygium ◽  
Oral Anomalies

The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually bilateral), intercrural pterygium, various digital anomalies that include hypoplasia or agenesis of digits, valgus or varus deformities of the feet and syndactyly, genitourinary anomalies (such as cryptorchidism, absent or cleft scrotum, inguinal hernia, hypoplasia or aplasia of the labia majora, and oral anomalies (such as cleft lip-palate, syngnathia and lower labial pits). There may also be filiform adhesion of the eyelids. This syndrome is but one of perhaps 20 or more that involve clefting of the lip and/or palate. It is inherited as an autosomal dominant trait with variable expressivity. Rarely is it transmitted from affected parent to offspring due to genital hypoplasia. The authors point out the importance of the awareness of the surgeon who corrects the popliteal pterygium since the sciatic nerve runs beneath the fibrous septum that forms the free edge of the pterygium.

scholarly journals Van der Woude Syndrome Associated with Hypodontia: A Rare Clinical Entity

2012 ◽  
Vol 2012 ◽  
pp. 1-3
Author(s):  
Romesh Soni ◽  
Rajul Vivek ◽  
Adit Srivastava ◽  
Ankita Singh ◽  
Shalabh Srivastava ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Clinical Entity ◽  
Rare Clinical Entity ◽  
Van Der Woude Syndrome

Van der Woude syndrome (VWS) is usually underreported and frequently not diagnosed. The phenomenon that cleft lip and palate are regularly combined in the same pedigree makes it unique. A meticulous examination of a patient with lip pits may reveal a hidden form of a cleft, for example, submucous. This paper presents a case of VWS in a ten-year-old boy with characteristic orofacial features. Special emphasis has also been given on the need for appropriate genetic counseling.

scholarly journals Van der woude syndrome with associated scaphocephaly: a rare case report

2021 ◽  
pp. 50749-50751
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Rare Case ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Van Der Woude Syndrome ◽  
Sagittal Craniosynostosis ◽  
Three Generations ◽  
Bilateral Cleft Lip ◽  
Rare Case Report

The purpose of this case is to provide a descriptive report of a rare combination of Van der Woude syndrome, recurrent in three generations of the same family, in a female patient with bilateral cleft lip and palate associated with a sagittal craniosynostosis (scaphocephaly).

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