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On-line version ISSN 2223-6279
Print version ISSN 0379-8577

Curationis vol.32 n.2 Pretoria  2009




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



HJS van den BergI; SM du PlessisII; K-W BütowIII; EM HoneyIV

IDipNurs, Comm NursSc. Community nurse
IIDipNurs, CommNursSc. Community nurse
IIIFCMFOS, DSc (Odont). Professor in Maxillo-Facial and Oral Surgery, University of Pretoria
IVPaediatrician and Senior Lecturer in Genetics, University of Pretoria





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 Fairbairn-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.

Key words: cleft lip and/or palate, facial cleft deformity, syndromes, genetic variations



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Ms HJS van den Berg
Facial Cleft Deformity Clinic
Department of Maxillo-Facial and Oral Surgery
University of Pretoria
PO Box 1266
Pretoria 0001, South Africa
Tel: (012) 3192232; Fax:(012) 3192172

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