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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.

Authors+Show Affiliations

Okamoto N
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
Takeuchi M
No affiliation info available
Kitajima H
No affiliation info available
Hosokawa S
No affiliation info available

MeSH

Abnormalities, MultipleBone and BonesFaceFemaleHumansInfant, NewbornSkullSyndrome

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 -