Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature

a The X-ray for bone age was not available in one case.

b The authors report on different skeletal anomalies: broad thumb in 10/17 patients, broad toes, brachydactyly, broad fingertips (described as frequent), clavicular anomalies (six patients), hip dysplasia (four cases).

c Patients with learning difficulties.

d The authors report obsessive tendencies, rigid mannerisms (7/25) and ADHD (9/32).

e Not reported in eight cases.

a Diagnosis of FHS requires meeting both mandatory criteria and at least one criterion from the frequent features category.

a Diagnosis of FHS requires meeting both mandatory criteria and at least one criterion from the frequent features category.

b Recurrent and infrequent categories include features that are not required for diagnosis, but further support FHS diagnosis and guide the clinical evaluation, planning and patient care, if present.

b Recurrent and infrequent categories include features that are not required for diagnosis, but further support FHS diagnosis and guide the clinical evaluation, planning and patient care, if present.