Skin manifestations of cardio-facio-cutaneous syndrome.

Abstract

The recently described cardio-facio-cutaneous syndrome is within the spectrum of multiple congenital anomalies-mental retardation syndromes. We describe two additional cases and review 22 previously reported cases. Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set posteriorly rotated ears, moderate to severe mental retardation, heart defects, and cutaneous abnormalities such as ichthyosis, widespread keratosis pilaris, keratosis pilaris atrophicans faciei, and palmoplantar keratoderma.

• Authors: L Borradori, C Blanchet-Bardon
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 28 Issue 5 Pt 2 Pg. 815-9 (May 1993) ISSN: 0190-9622 [Print] United States
• PMID: 8491871 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Abnormalities, Multiple
• Adult
• Diagnosis, Differential
• Face (abnormalities)
• Female
• Heart Defects, Congenital (pathology)
• Humans
• Infant
• Intellectual Disability
• Male
• Noonan Syndrome (diagnosis)
• Skin Diseases (pathology)
• Syndrome