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Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome


, : Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome. Clinical Dysmorphology 16(1): 21-25

Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández syndrome) has been described in seven individuals. We report the case of a 2-year-old boy with rhombencephalosynapsis, and review the evidence for a possible diagnosis of Gomez-López-Hernández syndrome. We also discuss other malformations reported in combination with rhombencephalosynapsis, and consider the possibility that a genetic aetiology for syndromic and nonsyndromic forms of rhombencephalosynapsis may be established with more detailed clinical and genetic studies.

US$19.90

PMID: 17159510

DOI: 10.1097/01.mcd.0000228426.97284.ff


Other references

Casier J.G.; Preat A.; Kasimi R., 1992: Ostracods and sedimentology of the uppermost Eifelian and lowermost Givetian in Couvin, at the southern edge of the Dinant Basin, Belgium. Bulletin de l'Institut Royal des Sciences Naturelles de Belgique Sciences de la Terre

Müller, K., 1993: Diarrhea in calves. Tijdschrift Voor Diergeneeskunde 118(18): 600-600

Cord-Landwehr, S.; Ihmor, P.; Niehues, A.; Luftmann, H.; Moerschbacher, B.M.; Mormann, M., 2017: Quantitative Mass-Spectrometric Sequencing of Chitosan Oligomers Revealing Cleavage Sites of Chitosan Hydrolases. Partially acetylated chito-oligosaccharides (paCOS) have diverse bioactivities that turn them into promising compounds especially for medical and agricultural applications. These properties likely arise from different acetylation patterns, but det...

Cooper H.M.; Charles Dominique P., 1985: A microcomputer data acquisition telemetry system a study of activity in the bat. A data acquisition system is described that consists of a double rate radio transmitter, which is sensitive to movement, a rate discriminator, and a portable microcomputer. The time of movements of several animals can be recorded simultaneously. R...

Fan, Y.Y.; Ramos, K.S.; Chapkin, R.S., 2001: Dietary c-linolenic acid suppresses aortic smooth muscle cell proliferation and modifies atherosclerotic lesions in apolipoprotein E knockout mice. The present study was conducted to evaluate the antiatherogenic effects of dietary c-linolenic acid (GLA) (primrose oil) in apolipoprotein E (apoE) genetic knockout mice. Five-wk-old male mice were fed cholesterol-free diets containing 10 g/100 g...

Anthwal, S.; Opdenakker, G.; Soloway, P.D.; Shapiro, S.D.; Owen, C.A., 2003: TIMP-1 promotes pericellular proteolysis by anchoring active MMP-9 to the PMN cell surface. Journal of Leukocyte Biology Supplement ( ): 23

Delmelle, E.; Hagenlocher, M.; Kienberger, S.; Casas, I., 2016: A spatial model of socioeconomic and environmental determinants of dengue fever in Cali, Colombia. NlmCategory="UNASSIGNED">Dengue fever has gradually re-emerged across the global South, particularly affecting urban areas of the tropics and sub-tropics. The dynamics of dengue fever transmission are sensitive to changes in environme...

Lou, S.Z.n; Chou, Y.L.; Chou, P.H.i; Lin, C.J.ng; Chen, U.C.i; Su, F.C.in, 2001: Sit-to-stand at different periods of pregnancy. Objective: This study was performed to determine the biomechanics of chair rising by pregnant women. Design: Relative body joint position and ground reaction forces were measured by a motion analysis system and one force plate. Background: Physiol...

Oertel, J.M.K.; Mondorf, Y.; Gaab, M.R., 2009: A new endoscopic spine system: the first results with "Easy GO". Endoscopy meets increasing interest by spine surgeons. However, endoscopic results are diverging and many spinal endoscopic systems are difficult to apply and handle. A system for endoscopic spinal surgery was developed where the main goals were:...

Sakai, N.; Wada, T.; Furuichi, K.; Shimizu, K.; Kokubo, S.; Hara, A.; Yamahana, J.; Okumura, T.; Matsushima, K.; Yokoyama, H.; Kaneko, S., 2006: MCP-1/CCR2-dependent loop for fibrogenesis in human peripheral CD14-positive monocytes. Monocyte/inacrophage (Mo) migration to sites of inflammation is a prerequisite cause of organ fibrosis. The recruitment and activation of Mo are regulated by C-C chemokines, especially monocyte chemoattractant protein-1 [(MCP-1)/CC cheniokine lig...