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Cardio-facio-cutaneous (CFC) syndrome: report of a new patient.
Am J Med Genet. 1989 Aug; 33(4):471-3.AJ

Abstract

We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome.

Authors+Show Affiliations

Chrzanowska K
Department of Human Genetics, Memorial Hospital-Child Health Centre, Warsaw, Poland.
Fryns JP
No affiliation info available
Van den Berghe H
No affiliation info available

MeSH

Abnormalities, MultipleChild, PreschoolDiseases in TwinsEctodermal DysplasiaFacial ExpressionFailure to ThriveFemaleHeart Defects, CongenitalHumansInfantInfant, NewbornIntellectual DisabilityMaleSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2596505

Citation

Chrzanowska, K, et al. "Cardio-facio-cutaneous (CFC) Syndrome: Report of a New Patient." American Journal of Medical Genetics, vol. 33, no. 4, 1989, pp. 471-3.
Chrzanowska K, Fryns JP, Van den Berghe H. Cardio-facio-cutaneous (CFC) syndrome: report of a new patient. Am J Med Genet. 1989;33(4):471-3.
Chrzanowska, K., Fryns, J. P., & Van den Berghe, H. (1989). Cardio-facio-cutaneous (CFC) syndrome: report of a new patient. American Journal of Medical Genetics, 33(4), 471-3.
Chrzanowska K, Fryns JP, Van den Berghe H. Cardio-facio-cutaneous (CFC) Syndrome: Report of a New Patient. Am J Med Genet. 1989;33(4):471-3. PubMed PMID: 2596505.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cardio-facio-cutaneous (CFC) syndrome: report of a new patient. AU - Chrzanowska,K, AU - Fryns,J P, AU - Van den Berghe,H, PY - 1989/8/1/pubmed PY - 1989/8/1/medline PY - 1989/8/1/entrez SP - 471 EP - 3 JF - American journal of medical genetics JO - Am J Med Genet VL - 33 IS - 4 N2 - We describe a girl with the cardio-facio-cutaneous (CFC) syndrome. She presented most of the characteristics of the new multiple congenital anomalies/mental retardation (MCA/MR) syndrome: unusual facial appearance and ectodermal symptoms, that is, abnormal hair and skin, ventricular septum defect, relative macrocephaly with large ventricles and cortical "atrophy," submucous cleft palate, and umbilical hernia. Her twin brother died shortly after birth and may have had the same malformation syndrome. SN - 0148-7299 UR - https://wwww.unboundmedicine.com/medline/citation/2596505/Cardio_facio_cutaneous__CFC__syndrome:_report_of_a_new_patient_ DB - PRIME DP - Unbound Medicine ER -