Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ) comprises a heterogeneous group of disorders characterized by bone fragility , frequent fractures , and low bone mass . Dominantly inherited COL 1 A 1 or COL 1 A 2 mutations appear to be causative in the majority of OI types , but rare recessively inherited genes have also been reported . Recently , SERPINF 1 has been reported as another causative gene in OI type VI . To date , only eight SERPINF 1 mutations have been reported and all are homozygous . Our patient showed no abnormalities at birth , frequent fractures , osteopenia , and poor response on pamidronate therapy . At the time of her most recent evaluation , she was 8 yr old , and could not walk independently due to frequent lower-extremity fractures , resulting in severe deformity . No clinical signs were seen of hearing impairment , blue sclera , or dentinogenesis imperfecta . In this study , we describe the clinical and radiological findings of one Korean patient with novel compound heterozygous mutations (c .77 dupC and c .421 dupC ) of SERPINF 1 .

Diseases
Validation

Diseases presenting "hearing impairment" symptom

22q11.2 deletion syndrome

achondroplasia

benign recurrent intrahepatic cholestasis

canavan disease

congenital diaphragmatic hernia

dentinogenesis imperfecta

hirschsprung disease

kabuki syndrome

kallmann syndrome

monosomy 21

oligodontia

pendred syndrome

zellweger syndrome

This symptom has already been validated