[McKusick-Kaufman syndrome in a new born girl (author's transl)].

Abstract

In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.

• Authors: Y Castel, L Toudic, D Alix, H Le Guern, A Colin, J Lavaud, C Le Gouguec
• Journal: Archives francaises de pediatrie (Arch Fr Pediatr) Vol. 39 Issue 1 Pg. 3-7 (Jan 1982) ISSN: 0003-9764 [Print] France
• Vernacular Title: Syndrome de McKusick-Kaufman, chez un nouveau-né de sexe féminin.
• PMID: 7065818 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Abnormalities, Multiple
• Bone and Bones (abnormalities)
• Diagnosis, Differential
• Ellis-Van Creveld Syndrome (diagnosis)
• Female
• Heart Defects, Congenital
• Humans
• Infant, Newborn
• Syndrome
• Vagina (abnormalities)