Trichorhinophalangeal syndrome type II: case report.
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.
Lambie
L
L
Department of Human Genetics, South African Institute for Medical Research, Johannesburg, South Africa.
de Ravel
T J
TJ
D002675:Child, Preschool; D003582:Cytogenetics; D017353:Gene Deletion; D005817:Genetic Counseling; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D008297:Male; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D013019:South Africa