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n. macrognatia, mandíbula demasiado grande.
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The morphological observations of fetuses showed anomalies like open eye lid, distorted body axis, kyphosis, skin hemorrhage, drooping wrist, microphthalmia, low set arm, kinky tail, exencephaly anophthalmia, maxillary macrognathia, microcephaly, clubbed foot and microtia.
In group III, abnormalities in fetuses were exencephaly, anophthalmia, maxillary macrognathia, sacral hygroma (7.
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.