E-ISSN 2534-9821
 

Original Research 


Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital

Marta Isabel Pinheiro, Vanessa Gorito, Cristina Ferreras, Ana Maia, Carla Pinto Mouta, Cleft Lip and Palate Multidisciplinary Group.

Abstract
Introduction: Orofacial clefts (OFCs) are a common congenital craniofacial malformation that derive from a complexity of genetic and environmental factors. Although OFCs are usually an isolated malformations, over 400 syndromes have been reported in association.
Purpose: This study aims to characterize patients with syndromic OFCs that attend Cleft Lip/Palate multidisciplinary group clinic at Centro Hospitalar Universitário de São João in Porto-Portugal.
Methods: A retrospective analysis of medical records from a cohort of patients that were observed between January 1992 and December 2018 was performed. The OFCs types were listed according to the Spina classification modified by Silva-Filho et al. OFCs laterality, family history, associated syndromes and identified gene anomalies were collected.
Results: The group included 617 patients, of which 57.3% were males. From the total, 18.6% had cleft lip, 38.1% had cleft lip and palate and 42% isolated cleft palate, which was the most frequent. The least frequent was the group of atypical clefts (1.3%). One hundred and fifty-seven patients (25.4%) had a family history of clefting. Syndromes were identified in 149 of the patients: Pierre Robin sequence was the most common (n=48; 32.2%), followed by 22q11.2 deletion syndrome, Van der Woude, Goldenhar and oral-facial-digital syndrome. Pierre Robin sequence occurred with additional syndromes in 18 cases (12.1%).
Discussion: This cohort has a 24.1% of an identifiable syndrome, number higher than described in the literature. The importance of monitoring the OFCs and associated syndromes is a key element not only to tailor the approach and management of the OFCs, the possible complications and to provide accurate and insightful genetic counseling.

Key words: Genetic syndromes, Orofacial clefts, Syndromic Orofacial Clefts


 
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How to Cite this Article
Pubmed Style

Pinheiro MI, Gorito V, Ferreras C, Maia A, Mouta CP, Group CLaPM, . Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589


Web Style

Pinheiro MI, Gorito V, Ferreras C, Maia A, Mouta CP, Group CLaPM, . Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. http://www.mdpub.net/?mno=44348 [Access: March 09, 2021]. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589


AMA (American Medical Association) Style

Pinheiro MI, Gorito V, Ferreras C, Maia A, Mouta CP, Group CLaPM, . Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589



Vancouver/ICMJE Style

Pinheiro MI, Gorito V, Ferreras C, Maia A, Mouta CP, Group CLaPM, . Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589



Harvard Style

Pinheiro, M. I., Gorito, V., Ferreras, C., Maia, A., Mouta, C. P., Group, C. L. a. P. M. & (2021) Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589



Turabian Style

Pinheiro, Marta Isabel, Vanessa Gorito, Cristina Ferreras, Ana Maia, Carla Pinto Mouta, Cleft Lip and Palate Multidisciplinary Group, and . 2021. Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589



Chicago Style

Pinheiro, Marta Isabel, Vanessa Gorito, Cristina Ferreras, Ana Maia, Carla Pinto Mouta, Cleft Lip and Palate Multidisciplinary Group, and . "Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital." doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589



MLA (The Modern Language Association) Style

Pinheiro, Marta Isabel, Vanessa Gorito, Cristina Ferreras, Ana Maia, Carla Pinto Mouta, Cleft Lip and Palate Multidisciplinary Group, and . "Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital." doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589



APA (American Psychological Association) Style

Pinheiro, M. I., Gorito, V., Ferreras, C., Maia, A., Mouta, C. P., Group, C. L. a. P. M. & (2021) Syndromic Orofacial Clefts – A Review of a Portuguese Central Hospital. doi:10.5455/IJMRCR.Syndromic-Orofacial-Clefts-589