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1. 頭蓋骨縫合早期癒合症の概要 overview of craniosynostosis
2. 頭蓋骨縫合早期癒合症候群 craniosynostosis syndromes
3. 幼児および小児における赤血球輸血の適応 indications for red blood cell transfusion in infants and children
4. 幼児および小児における小頭症：病因および評価 microcephaly in infants and children etiology and evaluation
5. 先天性筋性斜頚 congenital muscular torticollis

English Journal

Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.

Chaudhry A1, Sabatini P2, Han L2, Ray PN2, Forrest C3, Bowdin S1.
American journal of medical genetics. Part A.Am J Med Genet A.2015 Nov;167(11):2544-7. doi: 10.1002/ajmg.a.37218. Epub 2015 Jun 22.
Craniosynostosis is a clinically and genetically heterogeneous condition. Knowledge of the specific genetic diagnosis in patients presenting with this condition is important for surgical and medical management. The most common single gene causes of syndromic craniosynostosis are mutations in FGFR1,
PMID 26097063

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Al-Maawali A1,2,3,4, Barry BJ1,2,3, Rajab A5, El-Quessny M1,2, Seman A1, Coury SN1, Barkovich AJ6, Yang E7,8, Walsh CA1,2,3,9,10,11, Mochida GH1,2,9,12, Stoler JM1,9.
American journal of medical genetics. Part A.Am J Med Genet A.2015 Oct 13. doi: 10.1002/ajmg.a.37422. [Epub ahead of print]
Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epileps
PMID 26463574

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.

Kim J1, Won HH2, Kim Y1, Choi JR3, Yu N3, Lee KA3.
Journal of medical genetics.J Med Genet.2015 Oct;52(10):706-9. doi: 10.1136/jmedgenet-2015-103001. Epub 2015 Jun 4.
BACKGROUND: Craniosynostosis (CRS) is a premature closure of calvarial sutures caused by gene mutation or environmental factors or interaction between the two. Only a small proportion of non-syndromic CRS (NSC) patients have a known genetic cause, and thus, it would be meaningful to search for a cau
PMID 26044810