SciELO - Scientific Electronic Library Online

vol.32 número2Effect, of waterbirths and traditional bedbirths on outcomes for neonates índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados



Links relacionados

  • Em processo de indexaçãoCitado por Google
  • Em processo de indexaçãoSimilares em Google



versão On-line ISSN 2223-6279
versão impressa ISSN 0379-8577

Curationis vol.32 no.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



“Full text available only in PDF format”




MILLARD, DR 1976: Incidence of clefts in the world. Cleft Craft, Vol 1. Boston: Little, Brown and Co.         [ Links ]

VAN WYK, PJ; BÜTOW, K-W; VAN DERMERWE, CA & KLEYNHANS EE 1987: Die insidensie en kliniese voorkoms van gesplete gesigsdeformiteite in Transvaal. Journal Dental Association South Africa 42: 403406.         [ Links ]

BÜTOW, K-W 1995: Treatment of Facial Cleft Deformities. An illustrated guide. St.Louis: Ishiyaku EuroAmerica, Inc. Publishers.         [ Links ]

BÜTOW, K-W & VAN WYK, PJ 2007: Difference in the clinical appearances of white versus black patients with facial cleft deformities: A retrospective study. South African Dental Journal 62:298-304.         [ Links ]

BURDI, AR 1977: State-of-art (Epidemiology) - Section 1. Epidemiology, etiology, and pathogenesis of cleft lip and palate. Cleft Palate Journal 14: 262-269.         [ Links ]

VALLINO-NAPOLI, LD; RILEY, MM & HALLIDAY, J 2004: An epideminologic study of isolated cleft lip, palate, or both in Victoria, Australia from 1983 to 2000. Cleft Palate -Craniofacial Journal 41: 185 - 194.         [ Links ]

PALMER, IA & DU PLESSIS, SM 1996: The Facial Cleft Deformity Clinic, University of Pretoria: An evaluation of patient data. Hands-On: South Africa 8(1): 53-56.         [ Links ]

COLEMAN, JR & SYKES, JM 2001: The embryology, classification, epidemiology, and genetics of facial clefting. Facial Plastic Surgery Clinics North America 9: 1-13.         [ Links ]

COBOURNE, MT 2004: The complex genetics of cleft lip and palate. European Journal Orthodontics 26: 7-16        [ Links ]

STOLL, C; ALEMBI, Y; DOTT, B & ROTH MP 2000: Associated malformations in cases with oral clefts. Cleft Palate - Craniofacial Journal 37: 41-47.         [ Links ]

HOOGENDIJK CF & BÜTOW, K-W 2008: Fairbairn-Robin appearance controversial syndrome, 171 cases. Journal Cranio-Maxillofacial Surgery 36: S15-O.059.         [ Links ]

FOGH-ANDERSEN, P 1971: Epidemiology and etiology of clefts. Birth Defects 7: 50-53.         [ Links ]

REDELINGHUYS, IF& DE WITT,TW 1994: Demarquay - van der Woude syndrome. Incidence and surgical treatment of the lower lip. Hands-On: South Africa 6(1): 37-40.         [ Links ]

PITMAN, GD & POSTLETHWAITE, KR 1994: Columella reconstruction in the midline facial cleft: a case report. British Journal Oral Maxillofacial Surgery 32:153-154.         [ Links ]

NATSUME, N; SUZUKI, T & KAWAI T 1988: The prevalence of cleft lip and palate. British Journal Oral Maxillofacial Surgery 26: 232-236.         [ Links ]



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

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons