Literature DB >> 7063265

Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.

S L Linna, K Finni, S Similä, K Kouvalainen, J Laitinen.   

Abstract

Two brothers with typical clinical findings of the COFS-syndrome are described. In the cranial CT performed on the younger patient at the age of 2 years and 6 months, foci of intracranial calcification located symmetrically in the region of the lenticular nucleus and hemispheric white matter were noted. This finding is clearly distinguishable from the other known patterns of intracranial calcification and could be pathognomonic of the COFS-syndrome.

Entities:  

Mesh：

Year:  1982        PMID： 7063265     DOI： 10.1007/bf01221707

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  10 in total

1.  The cerebro-oculo-facio-skeletal syndrome.

Authors:  R B Surana; J R Fraga; S M Sinkford
Journal:  Clin Genet       Date:  1978-06       Impact factor: 4.438

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Authors:  E Willich; W Sellier; W Weigel
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1972-06

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Authors:  W L Schey
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1974-11

4.  Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.

Authors:  R B Lowry; R MacLean; D M McLean; B Tischler
Journal:  J Pediatr       Date:  1971-08       Impact factor: 4.406

5.  Further evidence for the autosomal-recessive inheritance of the COFS syndrome.

Authors:  I W Lurie; E D Cherstvoy; G I Lazjuk; M K Nedzved; S S Usoev
Journal:  Clin Genet       Date:  1976-12       Impact factor: 4.438

6.  The cerebro-oculo-facio-skeletal syndrome.

Authors:  M Preus; F C Fraser
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

7.  Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.

Authors:  S D Pena; M H Shokeir
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

8.  The value of CT in genetic counseling in tuberous sclerosis.

Authors:  L N Scotti; S C Bartoletti; A Rosenbaum; M I Ackerman
Journal:  Pediatr Radiol       Date:  1980

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Authors:  C Piussan; B Cuvelier; C Lenaerts; B Le Mareschal; C Réguet; B Risbourg
Journal:  Arch Fr Pediatr       Date:  1979-04

10.  Renal anomalies and oligohydramnios in the cerebro-oculofacio-skeletal syndrome.

Authors:  M Preus; P Kaplan; T H Kirkham
Journal:  Am J Dis Child       Date:  1977-01
  10 in total
  3 in total

1.  Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

Authors:  J M Graham ; K Anyane-Yeboa; A Raams; E Appeldoorn; W J Kleijer; V H Garritsen; D Busch; T G Edersheim; N G Jaspers
Journal:  Am J Hum Genet       Date:  2001-07-03       Impact factor: 11.025

2.  Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.

Authors:  L B Meira; J M Graham; C R Greenberg; D B Busch; A T Doughty; D W Ziffer; D M Coleman; I Savre-Train; E C Friedberg
Journal:  Am J Hum Genet       Date:  2000-03-15       Impact factor: 11.025

3.  Calcification of the central nervous system in a new hereditary neurological syndrome.

Authors:  E Reske-Nielsen; P K Jensen; O Hein-Sørensen; K Abelskov
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088
  3 in total

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