Fig. 1: Abnormality of bone formation and lowered height and gene analysis in the patient. | Human Genome Variation

Fig. 1: Abnormality of bone formation and lowered height and gene analysis in the patient.

From: Osteogenesis imperfecta, intellectual disability and recurrent infections in a male with a pathogenic SASH3 variant

Fig. 1

A Computed tomography at 1 year and 5 months of age. Bilateral hypoplasia of the diaphyseal ends of the femurs was observed. B X-ray of the hands at 2 years and 5 months of age. Underdevelopment of the finger bones in both hands was noted. C X-ray of the legs at 10 years of age. Shortening of the long bones and enlargement of the diaphyseal ends of the long bones are observed. D Growth curve. Marked growth retardation was observed in this patient. E Sanger sequencing. The patient has a hemizygous missense variant (c.1039C>T [p.Arg347Cys]) in the SASH3 gene. This pathogenic variant was inherited from the mother, who carries the same variant in the heterozygous state.

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