Table 2.

Rare skeletal dysplasia caused by SP7 mutations

	Lapunzina et al. [74] and Tung et al. [75]	Hayat et al. [76]	Fiscaletti et al. [77•]	Ludwig et al. [78•]	Whyte et al. [79]	Lui et al. [80••]
Patients (age)	Egyptian (8y) and Chinese (17y)	Pakistani (32y)	Iraq (13y)	Haitian (20y)	Race not provided (15y)	Race not provided (3y)
Diagnosis	Recessive OI	Recessive OI	Recessive OI	Dominant OI	Juvenile Paget’s disease	Neomorphic mutation
Mutations	c.1052delA (p.E351GfsX19)	c.824G > A (p.C275Y)	c.946C > T (p.R316C)	c.1019A > C (p.E340A)	c.926C > G (p.S309W)	c.926C > G (p.S309W)
Alterations	Absence of 3rd zinc-finger domain	No change to zinc-finger domain	Altered 1st zinc-finger domain	Altered 2nd zinc-finger domain	Altered 1st zinc-finger domain	Altered 1st zinc-finger domain
Height	Below normal	Short	Short	Normal	Normal	NA
Fractures	Yes	Yes	Yes	Yes	Yes	Yes
Bowing	Upper and lower limbs	Lower limbs	NA	NA	Lower limbs	Lower limbs
Scoliosis	Mild	Severe	Mild	Severe	Mild	Severe
Bone mineral density	Low at lumbar spine and femur	NA	Low at lumbar spine	Low at lumbar spine	High lumbar spine areal BMD	High lumbar BMD
Cortical porosity	NA	NA	High	High	NA	NA
Bone turnover	Normal ALP	Normal ALP	High trabecular BFR	Low BFR	High ALP and bone turnover	High ALP and bone turnover
Serum calcium and phosphorus	Normal	Normal	NA	Normal	Normal	Normal
Tooth morphology and eruption	Delayed [74, 75], DI, primary dentition, enamel hypoplasia, discoloration, obliterated pulp chamber, permanent dentition, bulbous crowns, short roots [75]	NA	Delayed, No DI	Broken teeth, No DI	DI, Short roots, Thin or no pulp	NA
Hearing	Normal	Normal	Loss	Loss	Loss	Normal
Face	Dysmorphism	Dysmorphism	Dysmorphism	Malocclusion	Dysmorphism	Craniosynostosis
Treatment	Bisphosphonate	NA	Zoledronate	NA	NA	Bisphosphonate