Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.
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.
Department of Paediatric Surgery, Yuksekova State Hospital, Hakkari, Turkey.
Tuncer Ahmet
TA
Ali
Department of Paediatric Surgery, Afyon Kocatepe University, Afyonkarahisar, Turkey.
Karavelioğlu
K
Afra
Department of Paediatric Surgery, Afyon Kocatepe University, Afyonkarahisar, Turkey.
Baskin Embleton
BE
Didem
Department of Medical Genetic, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey.
Elmas
E
Muhsin
Duodenal atresia; Holt–Oram syndrome; hand-heart syndrome; urogenital anomalies
Cardiovasc J Afr. 2012 Mar 12;23 (2):e3-4
22447508
Hum Mutat. 2005 Sep;26(3):176-83
16086360
Br Heart J. 1960 Apr;22:236-42
14402857
Hum Mutat. 2000 Dec;16(6):460-6
11102974
Radiology. 1976 Apr;119(1):179-85
943804
Rev Port Cardiol. 2014 Nov;33(11):737.e1-5
25455949
Arch Gynecol Obstet. 2009 Jul;280(1):111-3
19037651
Am J Hum Genet. 1999 Jun;64(6):1550-62
10330342
Orphanet J Rare Dis. 2014 Oct 25;9:156
25344219
Rom J Morphol Embryol. 2007;48(1):67-70
17502954