Article
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.
Clinical dysmorphology - 1 Jan 2012
Arpin Stéphanie, Afenjar Alexandra, Dubern Béatrice, Toutain Annick, Cabrol Sylvie, Héron Delphine
Abstract excerpt
Floating-Harbor Syndrome is a growth retardation syndrome with delayed bone age, typical facial features, and retarded speech development of unknown etiology. Very few familial cases have been reported. We report on the fourth case in a mother and daughter, suggesting autosomal dominant inheritance.
Topics
- Abnormalities, Multiple
- Adult
- Child, Preschool
- Craniofacial Abnormalities
- Facies
- Female
- Genes, Dominant
- Genetic Predisposition to Disease
- Growth Disorders
- Heart Septal Defects, Ventricular
- Humans