Perthes disease: A new finding in Floating-Harbor syndrome

Donatella Milani, Giulietta Scuvera, Marta Gatti, Gianluca Tolva, Francesca Bonarrigo, Susanna Esposito, Cristina Gervasini

Research output: Contribution to journalArticlepeer-review

Abstract

Floating-Harbor Syndrome (FHS; OMIM #136140) is an ultra-rare autosomal dominant genetic condition characterized by expressive language delay, short stature with delayed bone mineralization, a triangular face with a prominent nose, and deep-set eyes, and hand anomalies. First reported in 1973, FHS is associated with mutations in the SRCAP gene, which encodes SNF2-related CREBBP activator protein. Mutations in the CREBBP gene cause Rubinstein-Taybi Syndrome (RSTS; OMIM #180849, #613684), another rare disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability, which has a phenotypic overlap with FHS. We describe a case of FHS associated with a novel SRCAP mutation and characterized by Perthes disease, a skeletal anomaly described in approximately 3% of patients with RSTS. Thus Perthes disease can be added to the list of clinical features that overlap between FHS and RSTS.

Original languageEnglish
Pages (from-to)703-706
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number3
DOIs
Publication statusPublished - Mar 1 2018

Keywords

  • Floating-Harbor syndrome
  • perthes disease
  • Rubinstein-Taybi syndrome
  • SRCAP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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