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 language | English |
|---|---|
| Pages (from-to) | 241-246 |
| Number of pages | 6 |
| Journal | Journal of Pediatric Endocrinology and Metabolism |
| Volume | 29 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Feb 1 2016 |
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Keywords
- bone disorder
- facial appearance
- growth retardation
- small-for-gestational age
ASJC Scopus subject areas
- Endocrinology
- Endocrinology, Diabetes and Metabolism
- Pediatrics, Perinatology, and Child Health
Cite this
Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. / Hasegawa, Kousei; Tanaka, Hiroyuki; Higuchi, Yousuke; Yamashita, Miho; Tsukahara, Hirokazu.
In: Journal of Pediatric Endocrinology and Metabolism, Vol. 29, No. 2, 01.02.2016, p. 241-246.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations
AU - Hasegawa, Kousei
AU - Tanaka, Hiroyuki
AU - Higuchi, Yousuke
AU - Yamashita, Miho
AU - Tsukahara, Hirokazu
PY - 2016/2/1
Y1 - 2016/2/1
N2 - 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.
AB - 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.
KW - bone disorder
KW - facial appearance
KW - growth retardation
KW - small-for-gestational age
UR - http://www.scopus.com/inward/record.url?scp=84958171278&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84958171278&partnerID=8YFLogxK
U2 - 10.1515/jpem-2015-0272
DO - 10.1515/jpem-2015-0272
M3 - Article
C2 - 26488604
AN - SCOPUS:84958171278
VL - 29
SP - 241
EP - 246
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
SN - 0334-018X
IS - 2
ER -