WordNet

an elongated rectangular bone that forms the bridge of the nose (同)nasal_bone, os_nasale
any membranous gap between the bones of the cranium in an infant or fetus (同)fontanel, soft_spot

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1. 小児における身体的診察：HEENT the pediatric physical examination heent
2. 新生児の評価 assessment of the newborn infant
3. 新生児における機械的人工呼吸 neonatal birth injuries
4. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
5. 小児における中枢神経系腫瘍の臨床症状および診断 clinical manifestations and diagnosis of central nervous system tumors in children

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.

Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF1.
BMC medical genomics.BMC Med Genomics.2014 Sep 15;7:55. doi: 10.1186/1755-8794-7-55.
BACKGROUND: Trisomy 1q and monosomy 3p deriving from a t(1;3) is an infrequent event. The clinical characteristics of trisomy 1q41-qter have been described but there is not a delineation of the syndrome. The 3p25.3-pter monosomy syndrome (MIM 613792) characteristics include low birth weight, microce
PMID 25223409

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Kaiser FJ1, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.
Human molecular genetics.Hum Mol Genet.2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin regulatory protein, account for >80% of cases with typical fa
PMID 24403048

The impacts of comparative anatomy of electric rays (Batoidea: Torpediniformes) on their systematic hypotheses.

Claeson KM1.
Journal of morphology.J Morphol.2014 Jun;275(6):597-612. doi: 10.1002/jmor.20239. Epub 2013 Dec 26.
The Comparative anatomy of the 11 recognized genera within Torpediniformes is described, systematically categorized, and illustrated in a comprehensive photo-atlas. Data are compiled into a character matrix and cladistically analyzed using parsimony to test hypotheses about the previously recognized
PMID 24375652