Among the minor anomalies, low set ears,
epicanthic folds, simian crease and hypotonia were found to have a statistically significant association with the occurrence of chromosomal anomalies.
A comparison of the clinical features of the two probands with those reported in the literature [1] Clinical features Proband B Proband S Macrosomia Yes No Macrocephaly Yes Yes Hypertelorism,
epicanthic folds, Yes Yes downslanted palpebral fissures Redundant skin over glabella No No Macrostomia Yes Yes Macroglossia Yes Yes Midline groove lower lip or tongue Yes Yes Cleft lip or palate or high, narrow palate No No Macrognathia Yes No Congenital heart disease Yes Yes Conduction defects No No Diastasis recti/umbilical hernia No No Diaphragmatic hernia No No Renal dysplasia/nephromegaly Yes No Cryptorchidism/hypospadias Yes No Hand anomalies No Yes Rib anomalies Yes Yes Table 2.
* slanting eyes with a fold of skin at the inner corners (
epicanthic folds)
There may be prenatal hydrothorax, hydrops fetalis, dysmorphic facial features with
epicanthic folds, broad nasal bridge, neck webbing and low set ears.