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

1 January 1982

journal article
case report
Published by Springer Nature in Pediatric Radiology

Vol. 12 (1) , 28-30
https://doi.org/10.1007/bf01221707

Abstract

Two brothers with typical clinical findings of the COFS-sundrome 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.

Keywords

This publication has 15 references indexed in Scilit:

The cerebro-oculo-facio-skeletal syndrome
Clinical Genetics, 2008
The value of CT in genetic counseling in tuberous sclerosis
Pediatric Radiology, 1980
[The cerebro-oculo-facio-skeletal syndrome].
1979
Renal Anomalies and Oligohydramnios in the Cerebro-oculofacio-skeletal Syndrome
Archives of Pediatrics & Adolescent Medicine, 1977
Further evidence'for the autosomal‐recessive inheritance of the COFS syndrome
Clinical Genetics, 1976
INTRACRANIAL CALCIFICATIONS IN CHILDHOOD
American Journal of Roentgenology, 1974
Autosomal recessive Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndrome
Clinical Genetics, 1974
The Cerebro‐Oculo‐Facio‐Skeletal syndrome
Clinical Genetics, 1974
Die intrakraniellen Verkalkungen des Kindesalters
RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren, 1972
Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: A new syndrome
The Journal of Pediatrics, 1971