Literature DB >> 8182722

Recurrence of Pallister-Hall syndrome in two sibs.

H M Thomas1, P J Todd, D Heaf, A E Fryer.   

Abstract

We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.

Entities:  

Mesh：

Year:  1994        PMID： 8182722      PMCID： PMC1049678          DOI： 10.1136/jmg.31.2.145

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


  7 in total

1.  Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.

Authors:  F Encha-Razavi; J C Larroche; J Roume; G Migne; A L Delezoide; M Gonzales; N Mulliez
Journal:  Am J Med Genet       Date:  1992-01-01

2.  Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome.

Authors:  P D Pallister; F Hecht; J Herrman
Journal:  Am J Med Genet       Date:  1989-08

3.  Congenital hypothalamic hamartoblastoma syndrome: natural history and genetic implications.

Authors:  J M Graham; M Harris; J E Frank; G A Little; R Z Klein
Journal:  Prog Clin Biol Res       Date:  1985

Review 4.  Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.

Authors:  A Verloes; Y Gillerot; J P Langhendries; J P Fryns; L Koulischer
Journal:  Am J Med Genet       Date:  1992-07-01

5.  On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.

Authors:  M Muenke; E D Ruchelli; L B Rorke; D M McDonald-McGinn; M K Orlow; A Isaacs; F J Craparo; L K Dunn; E H Zackai
Journal:  Am J Med Genet       Date:  1991-12-15

Review 6.  Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

Authors:  K Iafolla; J D Fratkin; P K Spiegel; M M Cohen; J M Graham
Journal:  Am J Med Genet       Date:  1989-08

7.  Extending the Pallister-Hall syndrome to include other central nervous system malformations.

Authors:  D P Finnigan; S K Clarren; J E Haas
Journal:  Am J Med Genet       Date:  1991-09-15
  7 in total
  5 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  The Pallister-Hall syndrome.

Authors:  A Sama; J D Mason; K P Gibbin; I D Young; M Hewitt
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

3.  Familial Pallister-Hall syndrome.

Authors:  L G Biesecker; K Topf; J M Graham
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

4.  Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors:  A Verloes; A David; L Ngô; A Bottani
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

5.  Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

Authors:  K M Unsinn; N Neu; A Krejci; A Posch; G Menardi; I Gassner
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318
  5 in total

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