Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
16p12.3
Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615777.1 | United Arab Emirates | Male | Yes | Yes | Short long bone; Monkey wrench femoral n... Short long bone; Monkey wrench femoral neck; Flat face; Depressed nasal bridge; Long philtrum; Smooth philtrum; Distal joint laxity; Hyperlordosis  | NM_022166.3:c.2169dup | Homozygous | Autosomal, Recessive | Al-Jezawi et al. 2017 | Patient had a stillb... |