Literature DB >> 57229

[Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].

H C Hopf, H Pilz, H H Althaus.   

Abstract

In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of "Francois syndrome" and of "Hallermann-Streiff syndrome". However, as these authors did not add any essential details relevant for the classification of the syndrome we prefer to retain the term "Ullrich-Fremerey-Dohna syndrome". In our case in addition to the above mentioned and well known manifestations, extrapyramidal hyperkinesia of the choreoanthetotic type and servere mental deficiency accompanied by mild cerebral atrophy (revealed by pneumencephalography) were found.

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Mesh:

Year:  1976        PMID: 57229     DOI: 10.1007/bf00329160

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  22 in total

1.  A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract.

Authors:  J FRANCOIS
Journal:  AMA Arch Ophthalmol       Date:  1958-11

2.  Progeria with nanism and congenital cataracts in a five year old child.

Authors:  R C MOEHLIG
Journal:  J Am Med Assoc       Date:  1946-11-16

3.  Older paternal age and fresh gene mutation: data on additional disorders.

Authors:  K L Jones; D W Smith; M A Harvey; B D Hall; L Quan
Journal:  J Pediatr       Date:  1975-01       Impact factor: 4.406

4.  Further contributions to the study of the syndrome of Hallermann and Streiff. (Congenital cataract with "bird's face").

Authors:  F PONTE
Journal:  Ophthalmologica       Date:  1962       Impact factor: 3.250

5.  [Contribution to Ullrich-Fremerey-Dohna-Francois syndrome].

Authors:  M Teuscher
Journal:  Acta Ophthalmol (Copenh)       Date:  1974

6.  [Hallerman-Streiff-François syndrome (oculo-mandibulo-facacial discephalia)].

Authors:  L A Carrillo-Ballesteros; L Y Salazar-Avila
Journal:  Gac Med Mex       Date:  1973-08       Impact factor: 0.302

7.  [Case of Hallermann-Streiff syndrome].

Authors:  R Rudobielski; A Rudzińska
Journal:  Klin Oczna       Date:  1972

8.  Hallermann-Streiff syndrome.

Authors:  I Caspersen; M Warburg
Journal:  Acta Ophthalmol (Copenh)       Date:  1968

9.  The Hallerman-Strieff syndrome. Case report.

Authors:  J D Bonifant
Journal:  N Z Med J       Date:  1969-08

10.  [The Hallermann-Streiff-François syndrome or "bird head" dyscephaly].

Authors:  M T de Corte; C Lambotte; P Beauduin
Journal:  Rev Med Liege       Date:  1972-06
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  2 in total

1.  Oligophrenia with the Hallermann-Streiff syndrome.

Authors:  C Scoppetta; A Albanese; C Caltagirone
Journal:  J Neurol       Date:  1979-05-02       Impact factor: 4.849

2.  Oculomandibular dyscephaly (Hallermann-Streiff-François syndrome) associated with epilepsy.

Authors:  L Crevits; E Thiery; H van der Eecken
Journal:  J Neurol       Date:  1977-06-13       Impact factor: 4.849

  2 in total

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