Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism forTP63mutation

2016 ◽  
Vol 170 (9) ◽  
pp. 2372-2376 ◽  
Author(s):  
Annabelle Enriquez ◽  
Michael Krivanek ◽  
Ricarda Flöttmann ◽  
Hartmut Peters ◽  
Meredith Wilson
Keyword(s):  
Cleft Lip ◽  
Germline Mosaicism ◽  
Urogenital Abnormalities ◽  
Cleft Lip Palate

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

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

scholarly journals Isoform-Specific Roles of Mutant p63 in Human Diseases

Cancers ◽  
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.

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

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.

A novel H208DTP63mutation in a familial case of ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome without clefting

2009 ◽  
Vol 34 (8) ◽  
pp. e726-e728 ◽  
Author(s):  
L. Sorasio ◽  
E. Biamino ◽  
E. Garelli ◽  
G. B. Ferrero ◽  
M. C. Silengo
Keyword(s):  
Cleft Lip ◽  
Familial Case ◽  
Cleft Lip Palate

Association between velopharyngeal function and dental-consonant misarticulations in children with cleft lip/palate

2001 ◽  
Vol 54 (4) ◽  
pp. 290-293 ◽  
Author(s):  
J. Pulkkinen ◽  
M.-L. Haapanen ◽  
J. Laitinen ◽  
M. Paaso ◽  
R. Ranta
Keyword(s):  
Cleft Lip ◽  
Cleft Lip Palate ◽  
Velopharyngeal Function

ARM RESTRAINT IN CHILDREN WITH CLEFT LIP/PALATE

2003 ◽  
Vol 112 (1) ◽  
pp. 331-332 ◽  
Author(s):  
B. C. Sommerlad ◽  
T. Kangesu
Keyword(s):  
Cleft Lip ◽  
Cleft Lip Palate

Fracture of maxillo-zygomatic complex in patient with unilateral trans-incisive cleft lip/palate: case report

Oral Surgery ◽  
2013 ◽  
Vol 6 (3) ◽  
pp. 149-154
Author(s):  
J.D. da Silva de Menezes ◽  
G.L. Toledo ◽  
A.P.S. Correa ◽  
L.C. Carrasco ◽  
M.M. Capelari ◽  
...  
Keyword(s):  
Case Report ◽  
Cleft Lip ◽  
Cleft Lip Palate
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