EP09.12: The pattern of facial clefts in Hong Kong Chinese

Abstract

To analyse the pattern of facial clefts in Hong Kong Chinese. From 2001–2014, 165 facial clefts were delivered in our hospital. Clinical data of these cases including type of cleft, sex and other anomalies were retrieved from hospital records. Statistical analysis was performed using chi square test. During the 14-year period, 87,989 live births were delivered. The incidence of facial cleft was 1:533. 9 cases were excluded due to incomplete information. For the remaining 156 cases, 142 (91%) were typical cleft and 14 (9%) were atypical cleft. Male [85 (54%)] was more frequently affected than female [71 (46%)]. M:F ratio was 1.2:1. For the 142 typical clefts, majority were cleft lip and palate [83 (58%)], followed by cleft lip only [31 (22%)] and cleft palate only [28 (20%)]. Unilateral cleft [84/114 (74%)] was more common than bilateral [30/114 (26%)] and left side [52/84 (62%)] was more common than right side [32/84 (38%)]. All 14 atypical clefts and 46 (32%) typical clefts had associated anomalies: 23 (39%) aneuploidy, 12 (20%) genetic syndrome, 14 (23%) non-genetic syndrome and 11 (18%) other structural anomalies. The aneuploidies were 16 (70%) trisomy 13 and 7 (30%) Trisomy 18. The non-genetic syndromes were 11 (79%) amniotic band syndrome and 3 (21%) twin reversed arterial perfusion sequence. The genetic syndromes were achondrogenesis, Apert, arthrogryposis multiplex congenita, Cornelia de Lange, distal arthrogryposis, ectodermal dysplasia, frontonasal dysplasia, non-syndromic holoprosencephaly, Treacher Collins and 3 cases of Goldenhar. Significantly more atypical clefts [3/14 (21%)] and cleft palate only [5/28 (18%)] were involved in genetic syndromes than cleft lip with or without cleft palate [4/114 (4%)] (p = 0.005). The incidence of facial cleft is higher in Chinese than other ethnic groups. Given the high incidence of associated anomalies, clinicians should be wary of these associations, particularly when atypical cleft or cleft palate only is encountered.