Hereditary Cleft Lip/Palate and Wilms Tumor: A Rare Association

Objective: The association of cleft lip/palate (CLP) with other anomalies is not uncommon, but its association with Wilms tumor (WT) is very rare, especially in a familial pattern. In this report, we present a family in which six members in two generations were affected with CLP, WT, or both. Patients and Results: A male patient presented with right complete CLP. He had a family history of facial cleft and abdominal tumor. Lip repair was performed at 3 months of age. An abdominal mass was noticed at 12 months of age, which proved to be WT. Surgical excision of the tumor and chemotherapy were conducted. He subsequently underwent palate repair. His father had an unrepaired microform cleft lip. Three of his aunts were known to have similar problems: one had both facial cleft and WT, one had WT only, and the other had facial cleft only. One of his cousins also was affected with WT. Conclusions: This is a unique family affected with a rare association of CLP and WT. Pedigree study revealed an autosomal dominant hereditary pattern.

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The Rare Association of Cleft Lip and/or Palate and Wilms Tumor

The Cleft Palate-Craniofacial Journal ◽

10.1177/1055665618824440 ◽

2019 ◽

Vol 56 (8) ◽

pp. 1096-1106

Author(s):

Elizabeth Theng ◽

Meghan Tracy ◽

Susan Starling Hughes ◽

Alison Kaye

Keyword(s):

Partial Nephrectomy ◽

Retrospective Review ◽

Congenital Anomalies ◽

Cleft Lip ◽

Developmental Delays ◽

Wilms Tumor ◽

Rare Association ◽

Full Remission

There is currently no recognized connection between the occurrence of cleft lip and/or palate (CL/P) and Wilms tumor (WT). A retrospective review of cleft team records (2001-2015) revealed 3 cases of children, all male, with concomitant diagnoses of CL/P and WT treated at our institution. These patients presented as infants for care of their CL/P, all with additional congenital anomalies, developmental delays, and growth delays. Between the ages of 1 and 4 years, each was diagnosed with WT, which was treated with chemotherapy and partial nephrectomy, +/− radiation, leading to full remission in all cases.

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Speech-Language Pathology Services for Individuals With Cleft Lip/Palate in Less Developed Nations: The Operation Smile Approach

Perspectives on Speech Science and Orofacial Disorders ◽

10.1044/ssod8.1.12 ◽

1998 ◽

Vol 8 (1) ◽

pp. 12-14 ◽

Cited By ~ 1

Author(s):

Charlotte A. Ducote

Keyword(s):

Cleft Lip ◽

Speech Language Pathology ◽

Operation Smile ◽

Cleft Lip Palate ◽

Language Pathology ◽

Developed Nations

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Faculty Opinions recommendation of Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1000744.13071 ◽

2001 ◽

Author(s):

Sue Malcolm

Keyword(s):

Cleft Lip ◽

Cleft Lip Palate

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Advantages of using toothpaste containing propolis and plant oils for gingivitis prevention and oral cavity hygiene in cleft lip/palate patients

Biomedicine & Pharmacotherapy ◽

10.1016/j.biopha.2021.111992 ◽

2021 ◽

Vol 142 ◽

pp. 111992

Author(s):

Agnieszka Machorowska-Pieniążek ◽

Tadeusz Morawiec ◽

Marcin Olek ◽

Anna Mertas ◽

David Aebisher ◽

...

Keyword(s):

Oral Cavity ◽

Cleft Lip ◽

Plant Oils ◽

Cleft Lip Palate

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Isoform-Specific Roles of Mutant p63 in Human Diseases

Cancers ◽

10.3390/cancers13030536 ◽

2021 ◽

Vol 13 (3) ◽

pp. 536

Author(s):

Christian Osterburg ◽

Susanne Osterburg ◽

Huiqing Zhou ◽

Caterina Missero ◽

Volker Dötsch

Keyword(s):

Cleft Lip ◽

Ectodermal Dysplasia ◽

Skin Development ◽

Disease Mechanisms ◽

Skin Fragility ◽

Cleft Lip Palate ◽

Life Threatening ◽

Functional Consequences ◽

Development And Differentiation

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a life-threatening disorder characterized by skin fragility, severe, long-lasting skin erosions, and cleft lip/palate. The molecular disease mechanisms of these syndromes have recently become elucidated and have enhanced our understanding of the role of p63 in epidermal development. Here we review the molecular cause and functional consequences of these p63-mutations for skin development and discuss the consequences of p63 mutations for female fertility.

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Alveolar cleft and maximum cleft width as predictors for difficult laryngoscopy and intubation in patients with unilateral complete cleft lip and palate

Ain-Shams Journal of Anesthesiology ◽

10.1186/s42077-021-00137-7 ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Gamal A. Abdelhameed ◽

Wael A. Ghanem ◽

Simon H. Armanios ◽

Tamer Nabil Abdelrahman

Keyword(s):

Body Weight ◽

Odds Ratio ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Difficult Laryngoscopy ◽

Secondary Outcome ◽

Pediatric Airway ◽

Alveolar Cleft ◽

Cleft Lip Palate ◽

Width Measurements

Abstract Background Cleft lip and palate is one of the commonest congenital anomalies, which have an impact on feeding, speech, and dental development away from the significant psychosocial sequel. Early surgical repair aims to restore appearance and function, and the modern techniques can leave many defects undetectable. Therefore, the anesthetic challenge facing the pediatric airway with such abnormalities is still of a great impact. The aim of our study among 189 patients enrolled is to correlate alveolar gap and maximum cleft width measurements as predictors of difficult laryngoscopy and intubation in infants with unilateral complete cleft lip/palate aging from 1 to 6 months. As a secondary outcome, their weight is to be correlated too as another parameter. Results The alveolar gap and maximum cleft width are both of equal high predictive power (p value ≤ 0.001) with 100% sensitivity for both and specificity of 76.10% and 82.39% respectively, with a cut off value of ≤ 10 mm and 11 mm for these dimensions respectively, and odds ratio of incidence of difficult intubation is 4.18 and 5.68 respectively, while body weight ≤ 5.75 kg has an odds ratio of 2.32. Conclusion Alveolar cleft and maximum cleft width can be used as predictors for anticipation of difficult laryngoscopy and intubation infant patients with unilateral complete cleft lip and palate, while body weight ≤ 5.75 kg increases the risk more than twice.

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