Literature DB >> 2407847

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

H Bachman1, R D Clark, W Salahi.   

Abstract

We report two fetuses with hydrocephalus, features of holoprosencephaly, and postaxial polydactyly born to a consanguineous Mexican-American couple. The phenotype is consistent with the hydrolethalus syndrome, although holoprosencephaly has not previously been seen in this condition. We believe other similar cases with a trisomy 13 phenotype but normal chromosomes may also have the hydrolethalus syndrome.

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Mesh：

Year:  1990        PMID： 2407847      PMCID： PMC1016881          DOI： 10.1136/jmg.27.1.50

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

Review 1.  Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.

Authors:  M M Cohen
Journal:  Teratology       Date:  1989-09

2.  Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo.

Authors:  K Shiota; T Tanimura
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

3.  Holoprosencephaly and postaxial polydactyly: another observation.

Authors:  P Moerman; J P Fryns
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

4.  Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation.

Authors:  K Anyane-Yeboa; M Collins; W Kupsky; J Maidman; J Malin; M Yeh
Journal:  Am J Med Genet       Date:  1987-04

5.  The hydrolethalus syndrome.

Authors:  N Krassikoff; L Konick; E F Gilbert
Journal:  Birth Defects Orig Artic Ser       Date:  1987

Review 6.  Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis.

Authors:  D J Aughton; S B Cassidy
Journal:  Am J Med Genet       Date:  1987-08

7.  Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly.

Authors:  I D Young; D J Madders
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

8.  The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

Authors:  R Salonen; R Herva; R Norio
Journal:  Clin Genet       Date:  1981-05       Impact factor: 4.438
  8 in total
  7 in total

Review 1.  Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Authors:  Sophia M Bous; Benjamin D Solomon; Luitgard Graul-Neumann; Heidemarie Neitzel; Emily E Hardisty; Maximilian Muenke
Journal:  Clin Dysmorphol       Date:  2012-10       Impact factor: 0.816

2.  Cortical thinning and hydrocephalus in mice lacking the immunoglobulin superfamily member CDO.

Authors:  Wei Zhang; Min-Jeong Yi; Xiaoping Chen; Francesca Cole; Robert S Krauss; Jong-Sun Kang
Journal:  Mol Cell Biol       Date:  2006-05       Impact factor: 4.272

3.  Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

Authors:  M J Seller; L S Chitty; H Dunbar
Journal:  J Med Genet       Date:  1993-11       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

5.  Syndromes associated with holoprosencephaly.

Authors:  Paul Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-17       Impact factor: 3.908

6.  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

Review 7.  Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage.

Authors:  Tomáš Zárybnický; Anne Heikkinen; Salla M Kangas; Marika Karikoski; Guillermo Antonio Martínez-Nieto; Miia H Salo; Johanna Uusimaa; Reetta Vuolteenaho; Reetta Hinttala; Petra Sipilä; Satu Kuure
Journal:  Cells       Date:  2021-11-13       Impact factor: 6.600
  7 in total

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