Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3

被引：11

作者：

Chinen, Yasutsugu ^{[1
]}

Nakamura, Sadao ^{[1
]}

Ganaha, Akira ^{[2
]}

Hayashi, Shin ^{[3
,4
]}

Inazawa, Johji ^{[3
,4
]}

Yanagi, Kumiko ^{[5
]}

Nakanishi, Koichi ^{[1
]}

Kaname, Tadashi ^{[5
]}

Naritomi, Kenji ^{[6
]}

机构：

[1] Univ Ryukyus, Fac Med, Dept Pediat, 207 Uehara, Nishihara, Okinawa 9030125, Japan

[2] Univ Ryukyus, Fac Med, Dept Otorhinolaryngol Head & Neck Surg, Nishihara, Okinawa, Japan

[3] Tokyo Med & Dent Univ, Med Res Inst, Dept Mol Cytogenet, Tokyo, Japan

[4] Tokyo Med & Dent Univ, Hard Tissue Genome Res Ctr, Tokyo, Japan

[5] Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan

[6] Okinawa Nanbu Habilitat & Med Ctr, Naha, Japan

来源：

CLINICAL CASE REPORTS | 2018年 / 6卷 / 02期

关键词：

ASXL3; Bainbridge-Ropers syndrome; Sylvian fissure;

D O I：

10.1002/ccr3.1361

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical Message A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL3 gene in addition to typical findings of BRPS.

引用

页码：330 / 336

页数：7

共 17 条

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