Literature DB >> 3430550

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

I D Young1, D J Madders.   

Abstract

We present a stillborn male infant with premaxillary agenesis, bilateral microphthalmos, alobar holoprosencephaly, hydrocephalus, ventricular and atrial septal defects, small penis, bilateral cryptorchidism, and bilateral upper limb postaxial polydactyly.

Entities:  

Mesh：

Year:  1987        PMID： 3430550      PMCID： PMC1050355          DOI： 10.1136/jmg.24.11.714

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


  3 in total

1.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

2.  Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

Authors:  F C Fraser; A Lytwyn
Journal:  Am J Med Genet       Date:  1981

3.  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
  3 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.  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.  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

5.  A single morphogenetic field gives rise to two retina primordia under the influence of the prechordal plate.

Authors:  H Li; C Tierney; L Wen; J Y Wu; Y Rao
Journal:  Development       Date:  1997-02       Impact factor: 6.868

Review 6.  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

7.  Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.

Authors:  Ichrak Drissi; Emily Fletcher; Ranad Shaheen; Michael Nahorski; Amal M Alhashem; Steve Lisgo; Alberto Fernández-Jaén; Katherine Schon; Kalthoum Tlili-Graiess; Sarah F Smithson; Susan Lindsay; Hayley J Sharpe; Fowzan S Alkuraya; Geoff Woods
Journal:  J Med Genet       Date:  2021-04-05       Impact factor: 6.318
  7 in total

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