WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
an abnormal condition in which a normal opening or tube in the body (as the urethra) is closed or absent

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1. 鼻の先天異常 congenital anomalies of the nose
2. 鼻症状の原因：概要 etiologies of nasal symptoms an overview
3. 妊娠中の甲状腺機能亢進症：治療 hyperthyroidism during pregnancy treatment
4. 子宮内から子宮外の生活への生理的変化 physiologic transition from intrauterine to extrauterine life
5. アレルギー性鼻炎：臨床症状、疫学、および診断 allergic rhinitis clinical manifestations epidemiology and diagnosis

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

Sohn YB1, Ko JM2, Shin CH2, Yang SW2, Chae JH2, Lee KA3.
Journal of human genetics.J Hum Genet.2016 Mar;61(3):235-9. doi: 10.1038/jhg.2015.135. Epub 2015 Nov 5.
CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase DNA-binding protein 7 (CHD7). We performed a phenotypic characterization and genetic analysis of CHD7 in 18 Korean patients with CHARGE syndro
PMID 26538304

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Reijnders MR1, Zachariadis V2, Latour B3, Jolly L4, Mancini GM5, Pfundt R1, Wu KM3, van Ravenswaaij-Arts CM6, Veenstra-Knol HE6, Anderlid BM7, Wood SA8, Cheung SW9, Barnicoat A10, Probst F9, Magoulas P9, Brooks AS5, Malmgren H7, Harila-Saari A11, Marcelis CM1, Vreeburg M12, Hobson E13, Sutton VR9, Stark Z14, Vogt J15, Cooper N16, Lim JY17, Price S18, Lai AH17, Domingo D19, Reversade B20; DDD Study, Gecz J4, Gilissen C1, Brunner HG21, Kini U18, Roepman R22, Nordgren A7, Kleefstra T23.
American journal of human genetics.Am J Hum Genet.2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo los
PMID 26833328

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

Broome M1, Vial Y2, Jacquemont S3, Sergi C4, Kamnasaran D5, Giannoni E6.
Pediatrics and neonatology.Pediatr Neonatol.2016 Feb;57(1):65-8. doi: 10.1016/j.pedneo.2013.04.009. Epub 2013 Jun 15.
Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retard
PMID 23778189