A patient with Schinzel-Giedion syndrome and a review of 20 patients.Jpn J Hum Genet. 1995 Jun; 40(2):189-93.JJ
Abstract
The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.
Pub Type(s)
Case Reports
Journal Article
Review
Language
eng
PubMed ID
7662999
Citation
Okamoto, N, et al. "A Patient With Schinzel-Giedion Syndrome and a Review of 20 Patients." The Japanese Journal of Human Genetics, vol. 40, no. 2, 1995, pp. 189-93.
Okamoto N, Takeuchi M, Kitajima H, et al. A patient with Schinzel-Giedion syndrome and a review of 20 patients. Jpn J Hum Genet. 1995;40(2):189-93.
Okamoto, N., Takeuchi, M., Kitajima, H., & Hosokawa, S. (1995). A patient with Schinzel-Giedion syndrome and a review of 20 patients. The Japanese Journal of Human Genetics, 40(2), 189-93.
Okamoto N, et al. A Patient With Schinzel-Giedion Syndrome and a Review of 20 Patients. Jpn J Hum Genet. 1995;40(2):189-93. PubMed PMID: 7662999.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - A patient with Schinzel-Giedion syndrome and a review of 20 patients.
AU - Okamoto,N,
AU - Takeuchi,M,
AU - Kitajima,H,
AU - Hosokawa,S,
PY - 1995/6/1/pubmed
PY - 1995/6/1/medline
PY - 1995/6/1/entrez
SP - 189
EP - 93
JF - The Japanese journal of human genetics
JO - Jpn J Hum Genet
VL - 40
IS - 2
N2 - The Schinzel-Giedion syndrome is characterized by severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations. So far, 20 patients have been reported. This is the first report of the syndrome demonstrated in Oriental patients. In surviving patients, severe growth and developmental deficiency is a common finding.
SN - 0916-8478
UR - https://www.unboundmedicine.com/medline/citation/7662999/A_patient_with_Schinzel_Giedion_syndrome_and_a_review_of_20_patients_
L2 - http://www.diseaseinfosearch.org/result/6438
DB - PRIME
DP - Unbound Medicine
ER -