Case: A 7-year-old female revealed short bowed femurs and humeri with old fractures and bowed tibias and fibulas. Her height was 97cm and weight was 11kg. Her younger sister had the same phenotype as same as her mother. The Trio WES test showed that they all inherited from their mother's COL1A2 gene mutation (c.928G>A; p.G328S) and diagnosed Osteogenesis Imperfecta, type IV. Unfortunately, the 7-year-old girl also presents coarse face, short neck, limited mobility of large and small joints, claw hands, pectus carinatum and blue sclera. Genetic testing revealed she had another compound heterozygous mutation (c.1855C>G,pR619G; c1422_1423dupCT) in IDUA gene, inherited from father and mother, respectively. And she was diagnosed mucopolysaccharidosis Ih.
Conclusion: Our case shows that the Trio WES could help clinical doctors to identify unexpected diagnosis of dual rare disease precisely. And remind doctors to realize the chance of more than one rare diseases could occur in one patient.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology