Literature DB >> 3321994

Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis.

D J Aughton1, S B Cassidy.   

Abstract

We present an infant with manifestations of the hydrolethalus syndrome who has survived for over 5 months; previously, the longest survival reported in this condition has been 2 days. The literature is reviewed and the clinical and pathological findings of our patient are compared with those of the 50 previously reported cases. The differential diagnosis of the condition is discussed.

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Year:  1987        PMID: 3321994     DOI: 10.1002/ajmg.1320270421

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


  4 in total

1.  Hydrolethalus syndrome.

Authors:  R Salonen; R Herva
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

Authors:  D J Aughton; C T Sloan; M P Milad; T E Huang; C Michael; C Harper
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

3.  Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.

Authors:  H Bachman; R D Clark; W Salahi
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

Review 4.  Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

Authors:  A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

  4 in total

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