Literature DB >> 7850595

First-trimester diagnosis of hydrolethalus syndrome.

P Ammälä1, R Salonen.   

Abstract

At 12 weeks of gestation, a combination of atypical hydrocephalus with absent mid-line structures and club foot was detected during transvaginal ultrasound examination. These findings were diagnostic of hydrolethalus syndrome and were confirmed after subsequent termination of the pregnancy. This is the first known case of first-trimester prenatal diagnosis of hydrolethalus syndrome.

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Year:  1995        PMID: 7850595     DOI: 10.1046/j.1469-0705.1995.05010060.x

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  4 in total

Review 1.  The Finnish Disease Heritage III: the individual diseases.

Authors:  Reijo Norio
Journal:  Hum Genet       Date:  2003-03-08       Impact factor: 4.132

2.  Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Authors:  I Visapää; R Salonen; T Varilo; P Paavola; L Peltonen
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

3.  Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

Authors:  Murat Cakir; Ilke Mungan; Melike Makuloglu; Aysenur Okten
Journal:  Indian J Pediatr       Date:  2006-08       Impact factor: 5.319

4.  Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level.

Authors:  Heli Honkala; Jenni Lahtela; Heli Fox; Massimiliano Gentile; Niklas Pakkasjärvi; Riitta Salonen; Kirmo Wartiovaara; Matti Jauhiainen; Marjo Kestilä
Journal:  Pathogenetics       Date:  2009-04-28
  4 in total

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