Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations.

3-M syndrome (OMIM #273750, #612921, and #614205) is a rare autosomal recessive growth disorder that is characterized by pre- and postnatal growth retardation, normal intelligence, and characteristic faces. This syndrome also has characteristic radiological features, such as slender long bones and tall vertebral bodies. Three genes, cullin 7 (CUL7), coiled-coil domain containing 8, and obscurin-like 1 are genetic candidates of 3-M syndrome. Patients with 3-M syndrome have a characteristic facial appearance, including a triangular face, frontal bossing, an anteverted nose, dolichocephaly, and a long philtrum. However, information on adult 3-M syndrome patients, including facial appearance, is scarce. We report an adult female with 3-M syndrome that was caused by novel compound heterozygous mutations (c.4023-1 G>A in splice acceptor site of exon 22 and c.4359_4363dupGGCTG in exon 23) in the CUL7 gene. We also report the growth chart and changes in facial appearance of this patient from the neonate to adult.

Citation

Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Miho Yamashita, Hirokazu Tsukahara. Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. Journal of pediatric endocrinology & metabolism : JPEM. 2016 Feb;29(2):241-6

PMID: 26488604

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