Table 1.

Cumulative overview of molecular, clinical, and radiographic findings of the autosomal recessive MESD individuals reported to date

Findings	Cumulative numbers (12 individuals)
Location of pathogenic MESD alleles	homozygous in last exon (3): 9/12; compound heterozygous in exon 2 and 3: 3/12
Gender	4 females, 8 males
Consanguinity	9/12
Bisphosphonate treatment	5 have a history of bisphosphonate treatment
Confirmed prenatal fractures	7/12
Color of sclera	5 bluish, 3 white, 4 N/A
Disorganized dentition/clinical oligodontia	3 yes, 1 no, 1?, 7 N/A
Hearing impairment	3 no, 1 yes, 8 N/A
History of fractures	12/12
Vertebral/thoracic cage/rib fractures	11 yes, 1 no
Retarded gross motor function	6 yes

Findings for eight of the individuals were previously published (Moosa et al.¹⁴ and Stürznickel et al.¹⁵), and four are presented in this report. N/A, not available.