Literature DB >> 3130870

Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect.

R W Bendon1, T Siddiqi, G de Courten-Myers, P Dignan.   

Abstract

We present 2 examples of previously apparently undescribed congenital anomalies that recurred in a subsequent pregnancy. In one case this was a multiple-congenital-anomalies syndrome of hydranencephaly with multinucleated neurons, hypoplastic kidneys, and syndactyly of the second and third toes. The second case involved atrioventricular valve thickening resulting in tricuspid insufficiency and mitral stenosis. These cases suggest that if after a complete autopsy the findings are unprecedented, then the recurrent risk in a subsequent pregnancy may be high. This hypothesis has not been tested prospectively.

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Year:  1987        PMID: 3130870     DOI: 10.1002/ajmg.1320280541

Source DB:  PubMed          Journal:  Am J Med Genet Suppl        ISSN: 1040-3787


  4 in total

1.  An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Authors:  Lettie E Rawlins; Hannah Jones; Olivia Wenger; Myat Aye; James Fasham; Gaurav V Harlalka; Barry A Chioza; Alexander Miron; Sian Ellard; Matthew Wakeling; Andrew H Crosby; Emma L Baple
Journal:  Eur J Hum Genet       Date:  2019-01-08       Impact factor: 4.246

Review 2.  Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.

Authors:  Piero Pavone; Andrea D Praticò; Giovanna Vitaliti; Martino Ruggieri; Renata Rizzo; Enrico Parano; Lorenzo Pavone; Giuseppe Pero; Raffaele Falsaperla
Journal:  Ital J Pediatr       Date:  2014-10-18       Impact factor: 2.638

3.  A rare variation of hydranencephaly: case report.

Authors:  Buddhika Tb Wijerathne; Geetha K Rathnayake; Sisira K Ranaraja
Journal:  F1000Res       Date:  2012-10-03

4.  A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.

Authors:  Patrick Frosk; Heleen H Arts; Julien Philippe; Carter S Gunn; Emma L Brown; Bernard Chodirker; Louise Simard; Jacek Majewski; Somayyeh Fahiminiya; Chad Russell; Yangfan P Liu; Robert Hegele; Nicholas Katsanis; Conrad Goerz; Marc R Del Bigio; Erica E Davis
Journal:  J Med Genet       Date:  2017-03-06       Impact factor: 6.318

  4 in total

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