We retrospectively investigated the clinical findings and treatment of cleft lip, cleft palate, or both associated with chromosomal karyotype aberration. The patients were examined at the Second Department of Oral and Maxillofacial Surgery, Niigata University Dental Hospital between April 1982 and March 1998.
The findings obtained were as follows:
1. Twelve of 806 patients with cleft lip, cleft palate, or both (1.5%) had chromosomal aberrations. Four of these patients had bilateral cleft lip, alveolus, and palate, and 8 had cleft palate. In 10 primary cases, the incidence of chromosomal aberrations was 4.4%(3/68) in patients with bilateral cleft lip, alveolus, and palate and 5.1%(7/138) in patients with cleft palate.
2. Various types of chromosomal aberrations (No.13, 15, 21 numerical abnormalities and No.1, 2, 4, 5, 6, 7, 9, 13, 18, 21 structural abnormalities) were found, but there was no evidence of an association between the type of chromosomal aberration and the type of cleft lip or palate.
3. A history of spontaneous abortion was confirmed in the mothers of five patients, and similar chromosomal aberrations in blood relatives were confirmed in two patients.
4. Eight patients had major anomalies, and all 12 had minor anomalies. Mental retardation was confirmed in all patients.
5. Among 10 patients with primary cleft lip, cleft palate, or both, 1 underwent cheiloplasty and 5 underwent palatoplasty under general anesthesia. After the physical condition of the patient had stabilized, cheiloplasty was carried out at about 1 year of age and palatoplasty at 2 to 3 years of age in close cooperation with pediatricians and anesthesiologists. To minimize trauma, surgery should be done in one step.
