| Cardio-facio-cutaneous (CFC) syndrome: report of a new patient. | |
| | |
MedLine Citation:
|
PMID: 2596505 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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:
|
K Chrzanowska; J P Fryns; H Van den Berghe |
Related Documents
:
|
933665 - First branchial cleft syndromes and associated congenital hearing loss. 3321995 - New autosomal dominant branchio-oculo-facial syndrome. 18060555 - Case report and surgical solution for nasal spine agenesis in a woman with binder syndr... 17981355 - Fgf signalling and sumo modification: new players in the aetiology of cleft lip and/or ... 12149705 - Congenital bronchobiliary fistula in association with right-sided congenital diaphragma... 3581645 - Paroxysmal nocturnal hemoglobinuria presenting as recurrent hemolytic uremic syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics Volume: 33 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1989 Aug |
Date Detail:
|
Created Date: 1990-01-23 Completed Date: 1990-01-23 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 471-3 Citation Subset: IM |
Affiliation:
|
Department of Human Genetics, Memorial Hospital-Child Health Centre, Warsaw, Poland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis*,
genetics Child, Preschool Diseases in Twins / diagnosis Ectodermal Dysplasia / diagnosis*, genetics Facial Expression Failure to Thrive / genetics Female Heart Defects, Congenital / diagnosis*, genetics Humans Infant Infant, Newborn Male Mental Retardation / genetics Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Nocturnal rhythm of growth hormone in Duchenne patients: effect of different doses of mazindol and/o...
Next Document: A case of cardio-facio-cutaneous syndrome.