Literature DB >> 10678653

New syndrome?: Three sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts.

S Balci1, S Bostanoğlu, G Altinok, F Ozaltin.   

Abstract

Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5-week-old fetus. The last case supports the genetic hypothesis.

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Year:  2000        PMID: 10678653     DOI: 10.1002/(sici)1096-8628(20000131)90:3<185::aid-ajmg1>3.0.co;2-y

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

1.  Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia.

Authors:  P D Taulman; C J Haycraft; D F Balkovetz; B K Yoder
Journal:  Mol Biol Cell       Date:  2001-03       Impact factor: 4.138

Review 2.  Neonatal intestinal obstruction associated with situs inversus totalis: two case reports and a review of the literature.

Authors:  Rahul Gupta; Varsha Soni; Prakash Devidas Valse; Ram Babu Goyal; Arun Kumar Gupta; Praveen Mathur
Journal:  J Med Case Rep       Date:  2017-09-18

3.  Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome.

Authors:  Tamehito Onoe; Tadashi Konoshita; Koichi Tsuneyama; Ryoko Hamano; Ichiro Mizushima; Yasushi Kakuchi; Kazunori Yamada; Kenshi Hayashi; Masahiro Kuroda; Satoshi Kagitani; Hideki Nomura; Masakazu Yamagishi; Mitsuhiro Kawano
Journal:  Am J Case Rep       Date:  2013-01-28
  3 in total

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