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

Kosei Hasegawa, Hiroyuki Tanaka, Yousuke Higuchi, Miho Yamashita, Hirokazu Tsukahara

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)241-246
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Volume29
Issue number2
DOIs
Publication statusPublished - Feb 1 2016

Keywords

  • bone disorder
  • facial appearance
  • growth retardation
  • small-for-gestational age

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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