Original Research

Associated syndromes and other genetic variations at a South African cleft lip and palate clinic

H.J.S. van den Berg, S.M. du Plessis, K-W. Butow, E.M. Honey
Curationis | Vol 32, No 2 | a938 | DOI: https://doi.org/10.4102/curationis.v32i2.938 | © 2009 H.J.S. van den Berg, S.M. du Plessis, K-W. Butow, E.M. Honey | This work is licensed under CC Attribution 4.0
Submitted: 28 September 2009 | Published: 28 September 2009

About the author(s)

H.J.S. van den Berg, Community nurse, South Africa
S.M. du Plessis, Community nurse, South Africa
K-W. Butow, Maxillo-Facial and Oral Surgery, University of Pretoria, South Africa
E.M. Honey, Paediatrician and Senior Lecturer in Genetics, University of Pretoria, South Africa

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Abstract

A retrospective study was done of data on all patients registered at one of the largest cleft lip and palate clinics in South Africa (n = 3174). The associated syndromes and other genetic variations [(abbreviation:) ASGV] found in the population of persons suffering from facial cleft deformities (FCD) were analysed. 832 (26.2%) cleft lip and/ or palate patients presented with ASGV. Fifty-seven different types of syndromes were recorded of which the Fairbaim-Robin appearance (FRA) (or Pierre Robin sequence) 169 (5.3%), the Demarque-van der Woude syndrome 40 (1.3%), and the holoprosencephaly sequence cases 32 (1.0%) were the three most common ones. The three most common genetic variations found in the non-syndromic patients, were heart involvement 53(1.7%), club foot 42 (1.3%) and various eye problems 39 (1.2%).

The main facial cleft deformity, namely the cleft lip, alveolus and palate (CLAP), was found in 26.2% of the ASGV-group. This particular cleft deformity was recorded at 39.7% in the FCD clinic. On the other hand, the hard and soft palate cleft (hPsP) group was found in 32.9% of patients who also had ASGV; in the total group of patients registered at the clinic, it accounted for only 16.6%. This means that ASGV occur less commonly in the CLAP group of patients, than in the hPsP group of patients.


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