Abstract:
:Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, but much less severe microcephaly and a different type of movement disorder with later onset [Tomiwa K et al. (1987). Neuropediatrics 18:231-234]. An extensive literature search did not reveal any other reports of patients with a similar condition. We discuss the differential diagnosis.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Plomp AS,Baraitser M,Slaney SF,Winter RMdoi
10.1097/00019605-200009010-00002subject
Has Abstractpub_date
2000-01-01 00:00:00pages
11-4issue
1eissn
0962-8827issn
1473-5717journal_volume
9pub_type
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