Literature DB >> 2373111

Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report.

S Van Gool1, F de Zegher, L S de Vries, M Vanderschueren-Lodeweyckx, H Devlieger, P Casaer, E Eggermont.   

Abstract

An infant is described with coloboma of the right eye, holoprosencephaly and diabetes insipidus without craniofacial malformations. The association is discussed in view of the development of the prosencephalon and its relation to the development of craniofacial structures.

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Mesh：

Year:  1990        PMID： 2373111     DOI： 10.1007/bf02034747

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

1.  THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).

Authors:  W DEMYER; W ZEMAN; C G PALMER
Journal:  Pediatrics       Date:  1964-08       Impact factor: 7.124

2.  Pathoarchitectonic studies of cerebral malformations. III. Arrhinencephalies (holotelencephalies).

Authors:  P I YAKOVLEV
Journal:  J Neuropathol Exp Neurol       Date:  1959-01       Impact factor: 3.685

Review 3.  Clinical experience with desmopressin: efficacy and safety in central diabetes insipidus and other conditions.

Authors:  A S Harris
Journal:  J Pediatr       Date:  1989-04       Impact factor: 4.406

4.  Magnetic resonance imaging in diabetes insipidus.

Authors:  G Chiumello; B di Natale; C Pellini; A Beneggi; G Scotti; F Triulzi
Journal:  Lancet       Date:  1989-04-22       Impact factor: 79.321

5.  Familial holoprosencephaly with endocrine dysgenesis.

Authors:  R L Hintz; M Menking; J F Sotos
Journal:  J Pediatr       Date:  1968-01       Impact factor: 4.406

6.  Mapping of the early neural primordium in quail-chick chimeras. I. Developmental relationships between placodes, facial ectoderm, and prosencephalon.

Authors:  G F Couly; N M Le Douarin
Journal:  Dev Biol       Date:  1985-08       Impact factor: 3.582

7.  An update on the holoprosencephalic disorders.

Authors:  M M Cohen
Journal:  J Pediatr       Date:  1982-11       Impact factor: 4.406

8.  Mapping of the early neural primordium in quail-chick chimeras. II. The prosencephalic neural plate and neural folds: implications for the genesis of cephalic human congenital abnormalities.

Authors:  G F Couly; N M Le Douarin
Journal:  Dev Biol       Date:  1987-03       Impact factor: 3.582

9.  Arhinencephaly. The spectrum of associated malformations.

Authors:  J A Kobori; M K Herrick; H Urich
Journal:  Brain       Date:  1987-02       Impact factor: 13.501

10.  [Associated morphological anomalies of the face and brain in infants].

Authors:  G Couly; J Aicardi
Journal:  Arch Fr Pediatr       Date:  1988-02
  10 in total
  2 in total

Review 1.  Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

Authors:  Ariel F Martinez; Paul S Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-15       Impact factor: 3.908

2.  Use of Chlorothiazide in the Management of Central Diabetes Insipidus in Early Infancy.

Authors:  Manish Raisingani; Resmy Palliyil Gopi; Bina Shah
Journal:  Case Rep Pediatr       Date:  2017-05-03
  2 in total

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