Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
11p11.2
Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616229.1.1 | Lebanon | Unknown | Yes | Yes | Micromelia; Decreased skull ossification... Micromelia; Decreased skull ossification; Fractures of the long bones; Fetal onset  | NM_052854.4:c.928_930AAG[2] | Homozygous | Autosomal, Recessive | Keller et al. 2018 | |
| 616229.1.2 | Lebanon | Unknown | Yes | Yes | Lethal skeletal dysplasia; Decreased sku... Lethal skeletal dysplasia; Decreased skull ossification; Fractures of the long bones; Fetal onset | NM_052854.4:c.928_930AAG[2] | Homozygous | Autosomal, Recessive | Keller et al. 2018 | Sibling of 616229.1.... |
| 616229.1.3 | Lebanon | Unknown | Yes | Yes | Lethal skeletal dysplasia Lethal skeletal dysplasia | NM_052854.4:c.928_930AAG[2] | Homozygous | Autosomal, Recessive | Keller et al. 2018 | Sibling of 616229.1.... |
| 616229.1.4 | Lebanon | Male | Yes | Yes | Femur fracture; Osteopenia; Blue sclerae Femur fracture; Osteopenia; Blue sclerae | NM_052854.4:c.928_930AAG[2] | Heterozygous | Autosomal, Recessive | Keller et al. 2018 | Sibling of 616229.1.... |
| 616229.1.5 | Lebanon | Female | Yes | Yes | Osteopenia; Blue sclerae Osteopenia; Blue sclerae | NM_052854.4:c.928_930AAG[2] | Heterozygous | Autosomal, Recessive | Keller et al. 2018 | Sibling of 616229.1.... |
| 616229.1.6 | Lebanon | Female | Yes | Yes | Recurrent fractures; Blue sclerae Recurrent fractures; Blue sclerae | NM_052854.4:c.928_930AAG[2] | Heterozygous | Autosomal, Recessive | Keller et al. 2018 | Mother of 616229.1.1 |