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Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings.
Oral Surg Oral Med Oral Pathol. 1975 Jun; 39(6):893-900.OS

Abstract

Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

806047

Citation

Burzynski, N J., et al. "Craniocarpotarsal Dysplasia Syndrome (whistling Face Syndrome). Case Reports and Survey of Clinical Findings." Oral Surgery, Oral Medicine, and Oral Pathology, vol. 39, no. 6, 1975, pp. 893-900.
Burzynski NJ, Podruch PE, Howell J, et al. Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings. Oral Surg Oral Med Oral Pathol. 1975;39(6):893-900.
Burzynski, N. J., Podruch, P. E., Howell, J., & Snawder, K. (1975). Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings. Oral Surgery, Oral Medicine, and Oral Pathology, 39(6), 893-900.
Burzynski NJ, et al. Craniocarpotarsal Dysplasia Syndrome (whistling Face Syndrome). Case Reports and Survey of Clinical Findings. Oral Surg Oral Med Oral Pathol. 1975;39(6):893-900. PubMed PMID: 806047.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings. AU - Burzynski,N J, AU - Podruch,P E, AU - Howell,J, AU - Snawder,K, PY - 1975/6/1/pubmed PY - 1975/6/1/medline PY - 1975/6/1/entrez SP - 893 EP - 900 JF - Oral surgery, oral medicine, and oral pathology JO - Oral Surg Oral Med Oral Pathol VL - 39 IS - 6 N2 - Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern. SN - 0030-4220 UR - https://www.unboundmedicine.com/medline/citation/806047/Craniocarpotarsal_dysplasia_syndrome__whistling_face_syndrome___Case_reports_and_survey_of_clinical_findings_ L2 - https://www.diseaseinfosearch.org/result/2921 DB - PRIME DP - Unbound Medicine ER -