A variant example of familial Floating-Harbor syndrome?

Abstract

The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested. We describe a boy aged 2 years 11 months with clinical features of FHS and celiac disease. His mother also presents minor phenotypical characteristics, suggesting that the present observation corresponds to a variant example of familial FHS.

• Authors: J M Peñaloza, D García-Cruz, I P Dávalos, N O Dávalos, M O García-Cruz, D Pérez-Rulfo, J Sánchez-Corona
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 14 Issue 1 Pg. 31-7 ( 2003) ISSN: 1015-8146 [Print] Switzerland
• PMID: 12725587 (Publication Type: Case Reports, Journal Article)

Topics

• Age Determination by Skeleton
• Bone Diseases, Developmental (diagnosis, genetics)
• Celiac Disease (diagnosis, genetics)
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 22
• Craniofacial Abnormalities (diagnosis, genetics)
• Dwarfism (diagnosis, genetics)
• Facies
• Genetic Carrier Screening
• Genetic Variation
• Humans
• Language Development Disorders (diagnosis, genetics)
• Male
• Syndrome