Developmental paediatrics

Citations 1-10 of 10 total displayed.

Meconium-induced periorchitis

Hardy Krause, Hans-Juergen Hass, Ludwig von Rohden, Steffen Kroker, Peter Buhtz, Anja Jaekel, and Frank Meyer
BMJ Case Reports doi: 10.1136/bcr.04.2009.1801 [Summary] [Full text] [Request Permissions]  

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

E J Marco, F E Abidi, J Bristow, W B Dean, P Cotter, R J Jeremy, C E Schwartz, and E H Sherr
BMJ Case Reports doi: 10.1136/bcr.06.2009.1999 [Summary] [Full text] [Request Permissions]  

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

I K Temple, V Shrubb, M Lever, H Bullman, and D J G Mackay
BMJ Case Reports doi: 10.1136/bcr.06.2009.1997 [Summary] [Full text] [Request Permissions]  

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Nicole M C Maas, Tom Van de Putte, Cindy Melotte, Annick Francis, Constance T R M Schrander-Stumpel, Damien Sanlaville, David Genevieve, Stanislas Lyonnet, Boyan Dimitrov, Koenraad Devriendt, Jean-Pierre Fryns, and Joris R Vermeesch
BMJ Case Reports doi: 10.1136/bcr.06.2009.1994 [Summary] [Full text] [Request Permissions]  

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Anne Ronan, Kerry Fagan, Louise Christie, Jeffrey Conroy, Norma J Nowak, and Gillian Turner
BMJ Case Reports doi: 10.1136/bcr.05.2009.1914 [Summary] [Full text] [Request Permissions]  

Paediatric sports-related mild traumatic brain injury

Michelle Keightley, Catrin Theresa Duggan, Nick Reed, Jim McAuliffe, Tim Taha, Brent Faught, Moira McPherson, Joseph Baker, and William Montelpare
BMJ Case Reports doi: 10.1136/bcr.06.2008.0148 [Summary] [Full text] [Request Permissions]  

Developmental regression caused by complex multiloculated cystic hydrocephalus

Francis J Gilchrist, Warren Lenney, and Daniela Bakalinova
BMJ Case Reports doi: 10.1136/bcr.08.2008.0745 [Extract] [Full text] [Request Permissions]  

Trichotillomania: a cry for help

Vania Oliveira Carvalho, Kerstin Abagge, Leide Parolin Marinoni, and Betina Werner
BMJ Case Reports doi: 10.1136/bcr.09.2008.0896 [Extract] [Full text] [Request Permissions]  

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia–cystinuria syndrome

B Chabrol, K Martens, S Meulemans, A Cano, J Jaeken, G Matthijs, and J W M Creemers
BMJ Case Reports doi: 10.1136/bcr.08.2008.0719 [Summary] [Full text] [Request Permissions]  

Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum

C Orellana, Jordi Bernabeu, Sandra Monfort, Monica Rosello, Juan Silvestre Oltra, Irene Ferrer, Ramiro Quiroga, Isabel Martinez-garay, and Francisco Martinez
BMJ Case Reports doi: 10.1136/bcr.08.2008.0665 [Summary] [Full text] [Request Permissions]