Premium
Cockayne syndrome: The developing phenotype
Author(s) -
Tan WenHann,
Baris Hagit,
Robson Caroline D.,
Kimonis Virginia E.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30731
Subject(s) - cockayne syndrome , microcephaly , medicine , premature aging , atrophy , cerebral atrophy , dwarfism , pathology , pediatrics , biology , genetics , physiology , nucleotide excision repair , dna repair , gene
Abstract Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, “cachectic dwarfism” and progressive neurological degeneration. We present a 21‐year‐old woman who was not diagnosed with Cockayne syndrome type I until she was 21 years old. Family photographs demonstrated that the phenotype of Cockayne syndrome did not become evident until she was 8 years old. She had severe microcephaly, micrognathia, protruding ears, dental overcrowding with caries, progressive spastic quadriparesis, and severe developmental regression. Her head computed tomography (CT) showed bilateral calcification of the globus pallidus and global atrophy. The purpose of this clinical report is to alert clinicians to the fact that the phenotypic features of Cockayne syndrome may be very subtle early in the course of the disease. © 2005 Wiley‐Liss, Inc.