Table 1 Phenotypic characteristics of 118 fetuses with CFMs
From: Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations
Abnormalities | Isolated CFM (N) | Non-isolated CFM (N) | Referred cases (N) |
|---|---|---|---|
Cranial malformations | 41 (34.7%) | ||
Microcephaly | 5 | 4 | 9 |
Macrocephaly | 1 | 5 | 6 |
Defect in the skull bone | 0 | 13 | 13 |
Abnormal skull shape | 3 | 10 | 13 |
Orofacial clefts | 44 (37.3%) | ||
cleft lip | 6 | 4 | 10 |
cleft palate | 0 | 1 | 1 |
cleft lip and palate | 19 | 14 | 33 |
Ocular and orbital malformations | 6 (5.1%) | ||
Hypertelorism | 0 | 3 | 3 |
Hypotelorism | 0 | 2 | 2 |
Microphthalmia, Cataract | 0 | 1 | 1 |
Nasal deformity | 5 | 0 | 5 (4.2%) |
Ear abnormality | 2 | 1 | 3 (2.5%) |
Macroglossia | 0 | 1 | 1 (0.8%) |
Micrognathia | 1 | 0 | 1(0.8%) |
Complex CFMs | 5 | 12 | 17 (14.4%) |
Total | 47 (39.8%) | 71 (60.2%) | 118 (100%) |