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. Author manuscript; available in PMC: 2016 Sep 1.
Published in final edited form as: Pediatr Blood Cancer. 2015 May 6;62(9):1597–1600. doi: 10.1002/pbc.25534

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.