Abstract
3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies. We report a Japanese patient with 3M syndrome caused by the biallelic novel variants c.1705_1708del and c.1989_1999del of CUL7. Skeletal features were consistent with 3M syndrome in the early neonatal period but became less obvious by 2 years of age.
Highlights
3M syndrome is an autosomal recessive disorder characterized by severe growth retardation, distinct facial features, and skeletal changes, including long slender tubular bones and tall vertebral bodies
At 1 year and 3 months, reevaluation of skeletal X-rays showed mild manifestations for typical 3M syndrome compared with those observed at birth (Fig. 1e, f)
We identified the compound heterozygous variants NM_014780.4:c.1705_1708del:p.(Gly569Leufs*4) and c.1989_1999del:p.(Gln664Glyfs*12) of CUL7
Summary
We report a patient with novel compound heterozygous mutations who developed less-severe distinct skeletal features during the neonatal period until 2 years of age. At 1 year and 3 months, reevaluation of skeletal X-rays showed mild manifestations for typical 3M syndrome compared with those observed at birth (Fig. 1e, f). At the age of 1 year and 10 months, his weight was 6180 g (−4.3 SD), length was 62.8 cm (−7.3 SD), occipital frontal circumference was 46.5 cm (−1.1 SD), and chest circumference was 31.4 cm (Fig. 1g).
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
