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Whistling face syndrome. A case report and literature review.
Acta Paediatr Hung. 1991; 31(3):279-89.AP

Abstract

The cranio-carpo-tarsal or "whistling face" syndrome was first described by Freeman and Sheldon in 1938. More than 60 cases with great variability of expression are known till now and autosomal dominant as well as recessive inheritance and sporadic cases suggest a genetic heterogeneity. We review 60 well-documented cases of the literature and present a patient with a severe form, who died of bronchopneumonia at the age of 9 months. The facial stigmata of his mother and the ulnar deviations of his maternal grandfather support the autosomal inheritance of the syndrome.

Authors+Show Affiliations

Department of Paediatrics, Landeskrankenhaus Leoben, Austria.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1742043

Citation

Millner, M M., et al. "Whistling Face Syndrome. a Case Report and Literature Review." Acta Paediatrica Hungarica, vol. 31, no. 3, 1991, pp. 279-89.
Millner MM, Mutz ID, Rosenkranz W. Whistling face syndrome. A case report and literature review. Acta Paediatr Hung. 1991;31(3):279-89.
Millner, M. M., Mutz, I. D., & Rosenkranz, W. (1991). Whistling face syndrome. A case report and literature review. Acta Paediatrica Hungarica, 31(3), 279-89.
Millner MM, Mutz ID, Rosenkranz W. Whistling Face Syndrome. a Case Report and Literature Review. Acta Paediatr Hung. 1991;31(3):279-89. PubMed PMID: 1742043.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Whistling face syndrome. A case report and literature review. AU - Millner,M M, AU - Mutz,I D, AU - Rosenkranz,W, PY - 1991/1/1/pubmed PY - 1991/1/1/medline PY - 1991/1/1/entrez SP - 279 EP - 89 JF - Acta paediatrica Hungarica JO - Acta Paediatr Hung VL - 31 IS - 3 N2 - The cranio-carpo-tarsal or "whistling face" syndrome was first described by Freeman and Sheldon in 1938. More than 60 cases with great variability of expression are known till now and autosomal dominant as well as recessive inheritance and sporadic cases suggest a genetic heterogeneity. We review 60 well-documented cases of the literature and present a patient with a severe form, who died of bronchopneumonia at the age of 9 months. The facial stigmata of his mother and the ulnar deviations of his maternal grandfather support the autosomal inheritance of the syndrome. SN - 0231-441X UR - https://www.unboundmedicine.com/medline/citation/1742043/Whistling_face_syndrome__A_case_report_and_literature_review_ DB - PRIME DP - Unbound Medicine ER -