MATERIALS AND METHODS: Nineteen linear facial measurements were derived from 16 standardized surface landmarks obtained from 37 cleft patients (20 males, 17 females; mean age 23.84 years, standard deviation ± 6.02). They were taken manually with calipers and were compared with the digitally calculated distance on the 3D images captured using the VECTRA-M5 360° Imaging System with pre-marked landmarks. Another pair of 19 linear measurements were computed on the 3D images 2 weeks apart for intra- and inter-observer agreements. Statistical analyses used were paired t test, the Bland-Altman analysis, and the intra-class correlation coefficient (ICC) index.

RESULTS: Most of the linear measurements showed no statistically significant differences between the proposed method and direct anthropometry linear measurements. Nevertheless, bias of the 3D imaging system is present in the linear measurements of the nose width and the upper vermillion height. The measurements' mean biases were within 2 mm, but the 95% limit of agreement was more than 2 mm. Intra- and inter-observer measurements generally showed good reproducibility. Four inter-observer measurements, the upper and lower face heights, nose width, and pronasale to left alar base were clinically significant.

CONCLUSIONS: Measurements obtained from this 3D imaging system are valid and reproducible for evaluating CLP patients.

OBJECTIVES: This study examined the speech and hearing status of Malay-speaking children with CLP residing in Kuala Lumpur.

METHODS: Parents whose children were between the age of 5 and 7 years were recruited via the Cleft Lip and Palate Association of Malaysia (CLAPAM) registry. Parents completed a survey and the children completed a speech and hearing assessment at the Audiology and Speech Sciences Clinic, Universiti Kebangsaan Malaysia.

OUTCOMES: Speech measures include nasality rating, nasalance scores, articulation errors and speech intelligibility rating, while hearing measures include hearing thresholds and tympanometry results for each child.

RESULTS: Out of 118 registered members who fulfilled the inclusion criteria, 21 agreed to participate in the study. The overall speech and hearing status of children in this sample were poor. Only four (19%) participants had normal speech intelligibility rating and normal hearing bilaterally. In terms of overall cleft management, only four (19%) participants were seen by a cleft team while seven (33%) had never had their hearing tested prior to this study.

METHODS: Genome-wide linkage analysis was carried out on eight large extended families of NSCL/P with the total of 91 individuals among Malay population using microarray platform. Based on linkage analyses findings, copy number variation (CNV) of LPHN2, SATB2, PVRL3, COL21A1, and TOX3 were identified in four large extended families that showed linkage evidence using quantitative polymerase chain reaction (qPCR) as for a validation purpose. Copy number calculated (CNC) for each genes were determined with Applied Biosystems CopyCallerTM Software v2.0. Normal CNC of the target sequence expected was set at two.

RESULTS: A significant nonparametric linkage (NPL) score was detected in family 100. Other suggestive NPL and logarithm of the odds (LOD) scores were attained from families 50, 58, 99 and 100 under autosomal recessive mode. Heterogeneity LOD (HLOD) score ≥ 1 was determined for all families, confirming genetic heterogeneity of the population and indicating that a proportion of families might be linked to each other. Several candidate genes in linkage intervals were determined; LPHN2 at 1p31, SATB2 at 2q33.1-q35, PVRL3 at 3q13.3, COL21A1 at 6p12.1, FOXP2 at 7q22.3-q33, FOXG1 and HECTD1 at 14q12 and TOX3 at 16q12.1.