Trichorhinophalangeal syndrome type II: case report.
作者信息
Lambie L, de Ravel T J
机构信息
Department of Human Genetics, South African Institute for Medical Research, Johannesburg, South Africa.
出版信息
East Afr Med J. 2000 Jan;77(1):57-9.
PMID:10944842
Abstract
Patients with the trichorhinophalangeal syndrome type II, also known as the Langer-Giedion syndrome, may present to the health care-givers or physicians in various specialties and need to be recognised in order that accurate diagnosis, management and counselling about prognosis and recurrence risks may be carried out. A case of young male with this condition is presented.
摘要
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