Table 1.

Summary of main clinical features in the 5 affected males from the family and comparison with other patients described in the literature.

Clinical findings	Affected males from this family					Other reports
	IV-7 (Proband)	III-10	III-14	III-21	III-25	Tarpey et al. (2007)*	Laumonnier et al. (2010)*	Lynch et al. (2012)
Age at examination	18 years	51 years	Died at 45 years of an embolism	Died at 22 years of a heart attack	46 years
Height >97th	Yes	No	Yes	Yes	Yes		No	No
Weight >97th	Yes	No	No	No	Yes		No	No
Head circumference >97th	Yes	No	No	Yes	Yes		No	1/2
Facial features
Long face	Yes	Yes	No	Yes	Yes	Yes		2/2
Broad forehead	Yes	No	No	Yes	No	Yes	Yes	1/2
Deep set eyes	Yes	Yes	Yes	No	Yes			1/2
High nasal bridge	Yes	No	Yes	Yes	Yes	Yes		2/2
Long narrow nose	Yes	Yes	Yes	Yes	Yes			1/2
Short philtrum	Yes	Yes	Yes	Yes	Yes			2/2
High arched palate	Yes	No	Not examined	Not examined	Yes	Yes
Musculoskeletal features
Hypotonia	Yes	No	No	No	No		Yes	1/2
Slender build/poor musculature	No	No	No	Yes	No	Yes
Scoliosis	Yes	Yes	?	Yes	Yes		Yes
Kyphosis	No	Yes	No	No	No		Yes
Marfanoid-like features	No	No	No	Yes	No	Yes	Yes
Long, thin hyperextensible fingers and toes	Yes	No	Yes	Yes	Yes		Yes
Neurodevelopment
Degree of Intellectual Disability	Moderate: IQ < 50	Profound: IQ = 20,5	Mild: IQ < 70	Moderate: IQ < 50	Mild: IQ = 67	Mild to severe	Borderline to severe	Mild and moderate
Seizures	Yes	No	No	Yes	Yes		Yes	No
Speech impairment	Absent speech	Absent speech	Yes	Absent speech	Yes			½
Stereotypies	Yes	No	Yes	No	No			2/2
ASD (using ADOS)	Yes	No	No	Yes	No	Yes		2/2
Behavioral problems	Yes	No	No	No	Yes	Yes		2/2
Brain CT scan or MRI	Normal	Normal	Not examined	Not examined	Normal			Normal

In the articles by Tarpey et al. (2007) and Laumonnier et al. (2010) (*) “Yes” means that there are some patients with the clinical signs but not all. In Lynch et al. (2012) there are only two patients described.