[Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome].

Abstract

The existence in a new-born child of post-axial polydactyly, associated with an abdominal tumor due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the McKusick-Kaufman syndrome. This syndrome must be differentiated from the Ellis-Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with a "chondrodysplasis" and an "ectodermodysplasia".

• Authors: Y Castel, L Toudic, D Alix, H Le Guern, A Colin
• Journal: Journal de genetique humaine (J Genet Hum) Vol. 30 Issue 4 Pg. 329-37 (Nov 1982) ISSN: 0021-7743 [Print] Switzerland
• Vernacular Title: Polydactylie post-axiale chez un nouveau-né de sexe féminin, associée à un hydrocolpos par atrésie vaginale et à une cardiopathie congenitale: syndrome de McKusick-Kaufman.
• PMID: 7169598 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Female
• Fingers (abnormalities)
• Heart Defects, Congenital (pathology)
• Humans
• Infant, Newborn
• Syndrome
• Toes (abnormalities)
• Vagina (abnormalities)
• Vaginal Diseases (congenital, pathology)