Table I.
Spectrum of physical malformations among 77 DBA patients
Malformation | Number of patients | % |
---|---|---|
Craniofacial dysmorphism* | 23 | 29.9 |
Craniofacial dysmorphism, webbed neck | 12 | 15.6 |
Craniofacial dysmorphism, cardiac malformation** | 7 | 9.0 |
Craniofacial dysmorphism, cryptorchidism | 1 | 1.3 |
Craniofacial dysmorphism, cardiac malformation, malformation of the gastrointestinal tract***, single kidney | 2 | 2.6 |
Multiple malformation (craniofacial, heart, hypospadias, bone dysplasia, microcephaly, absent left ear) | 1 | 1.3 |
None | 31 | 40.3 |
Craniofacial defects observed in our cohort of patients includes micrognathia, high arched palate, ocular hypertelorism, epicanthus, broad flat nasal bridge, microtia, low-set ears and in two cases low anterior hairline.
Cardiac malformations included aortic septal defect, membranous subaortic stenosis, pulmonary stenosis, patent foramen ovale, ventricular septal defect, patent ductus arteriosus.
Malformation of the gastrointestinal tract – malrotation, megacolon.