Table 2.

Comparison of Features Present in FTHS Patients and Sh3pxd2b^−/− Mice

	FTHS Patients	Sh3pxd2b−/− Mice
Craniofacial
Brachycephaly	+	−
Suture agenesis	+	+
Wormian bones	+	+
Prominent forehead	+	+
Hypertelorism	+	+
High palate	+	+
Dentition abnormalities	+a	+
Micrognathia	+	+
Skeletal
Prominent sternum/xyphoid	−	+
Pectus excavatum	+	−
Increased thoracic kyphosis	+	+
Pelvic anomalies	+b	+
Bowing of long bones	+	−
Extremity abnormalities	+c	ND
Prominent coccyx	+	NA
Eye
Glaucoma	+	+
Megalocornea	+	+d
Buphthalmos	+	+
Cardiac
Ventricular defectse	+	+
Other
Growth retardationf	+	+
Adiposity	?g	+

The following abbreviations are used: ND, not determined; NA, not applicable. + denotes that the feature is present and – denotes that the feature was not detected in the patients or mice.

^aPatients present broad alveolar ridges.

^bPatients present hip dysplasia, whereas mice have malformation of iliac crest.

^cPatients present short hands, flexion deformity of hands, and club feet.

^dUnlike megalocornea in humans, the enlargement of the cornea increases with age.

^eDefects in patients include mitral valve anomalies, double-outlet right ventricle, and ventricular septal defects. In the mice, dysmorphia of the septal anterior wall, ventricles, and mitral valve have been observed.

^fPatients have been described to be in the lower weight and height centiles as they grow.

^gOne patient reported to have “little or no subcutaneous fat.”