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

Features	Category
Characteristic face	mandatory Diagnosis of FHS requires meeting both mandatory criteria and at least one criterion from the frequent features category.
Language delay	mandatory
Short stature	frequent Diagnosis of FHS requires meeting both mandatory criteria and at least one criterion from the frequent features category.
Delayed bone age	frequent
Skeletal anomalies	frequent
Intellectual disability	frequent
Behavioral problems	recurrent 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.
Eye anomalies	recurrent
Ear anomalies	recurrent
Dental issues	recurrent
Genitourinary malformations	infrequent 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.
Cardiac malformations	infrequent
Gastrointestinal features	infrequent
Seizures	infrequent
Hypothyroidism	infrequent

Features	Literature				This Study
References	[4]	[5]	[6]	[8]
Facial gestalt	13/13	6/6	52/52	5/5	[+]
Language delay	13/13	6/6	52/52	5/5	[+]
Growth deficiency	13/13	6/6	39/52	5/5	[+]
Delayed bone age	13/13	6/6	23/25	4/5 The X-ray for bone age was not available in one case.	[+]
Skeletal anomalies	10/13	6/6	[+] 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).	5/5	[+]
Intellectual disability	6/13	3/6	37/43 Patients with learning difficulties.	4/5	[+]
Behavioral problems	NR	NR	[+] The authors report obsessive tendencies, rigid mannerisms (7/25) and ADHD (9/32).	3/5	[+]
Eye anomalies	4/13	2/6	13/43	0/5	[–]
Ear anomalies	4/13	0/6	15/52	2/5	[–]
Dental issues	4/13 Not reported in eight cases.	NR	21/38	1/5	[+]
Genitourinary malformations	8/13	1/6	5/24	0/5	[+]
Cardiac malformations	3/13	3/6	3/52	0/5	[–]
Gastrointestinal malformations	2/13	0/6	5/24	0/5	[–]
Seizures	0/13	1/6	6/52	0/5	[–]
Hypothyroidism	NR	0/6	2/52	0/5	[–]

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