Details

Autor(en) / Beteiligte

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

Titel

Perthes disease: A new finding in Floating‐Harbor syndrome

Ist Teil von

• American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.703-706

Ort / Verlag

United States: Wiley Subscription Services, Inc

Erscheinungsjahr

2018

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.