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Case Reports
. 2016 Oct-Dec;21(4):193-195.
doi: 10.4103/0971-9261.186552.

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome

Tuncer Ahmet Ali  1 , Karavelioğlu Afra  2 , Baskin Embleton Didem  2 , Elmas Muhsin  3
Affiliations
Case Reports

Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome

Tuncer Ahmet Ali et al. J Indian Assoc Pediatr Surg. 2016 Oct-Dec.

Abstract

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.

Keywords: Duodenal atresia; Holt–Oram syndrome; hand-heart syndrome; urogenital anomalies.

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Figures

Figure 1
Figure 1
Operation scar on chest wall due to atrial septal defect repair (asterix), simple left ear (arrowhead), and right thumb and radial aplasia (arrow) are shown
Figure 2
Figure 2
Phocomelia (radial aplasia) of bilateral upper extremities (arrows)
See this image and copyright information in PMC

References

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