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959W Cherubism: Clinical, radiological and familial
aspects in a large French family.
G. Morin, S. Demachy,
E. Cadet, B. Demeer, S. Testelin, S. De Broca, J.
Rochette, B. Devauchelle, M. Mathieu.
960W Ischiospinal dysostosis results from mutations in
BMPER and is allelic with
diaphanospondylodysostosis.
L. Nevarez, S.
Nampoothiri, O. Kim, A. Superti-Furga, D. H. Cohn.
961W Parry Romber syndrome: Multidisciplinary
evaluation of six patients by orthodontics and genetics
at Hospital para el Nino Poblano, Mexico.
S. Ochoa, J.
Aparicio, E. Huitzil.
962W Skeletal anomalies and severe language
disorder with submicroscopic deletion in 12q13
including HOXC cluster.
N. Okamoto, K. Shimojima, T.
Yamamoto.
963W Hereditary disorders of connective tissue in
patients with intracranial hypotension syndrome.
E.
Reinstein, W. Schievink, M. Pariani, D. Rimoin.
964W The Singleton-Merten syndrome calcification
paradox is potentially associated with decreased
TGFBRII
expression.
F. Rutsch, Y. Nitschke, I. Buers, O.
Mamaeva, J. Dong, C. Müller, HG. Kehl, J. Kleinheinz, P.
Barth, M. Daudon, D. Bazin, R. Hennekam, M.
MacDougall.
965W Crommelin-type symmetrical tetramelic
reduction deformity: Report of a case with review of
prenatal and postnatal findings, differential diagnosis
and etiology.
S. Sawyer, O. Caluseriu, J. Kohlhase, A. M.
Innes.
966W Head and neck pain in EDS: Significant co-
morbidity.
B. Tinkle.
967W Candidate gene analysis of nonsyndromic
sagittal craniosynostosis.
X. Ye, A. Guilmatre, E. Jabs, Y.
Heuzé, J. Richtsmeier, D. Fox, C. Druschel, R. Goedken,
P. Romitti.
968W Rasmussen encephalitis associated with other
autoimmune disorders.
F. Andermann, D. Amrom, D.
Kinay, M. Guduk, D. Atakli, B. Arpaci, S. Berkovic, Y. Hart,
E. Andermann, A. Bar-Or.
969W Action myoclonus-renal failure syndrome:
Founder effect in French Canadians.
E. Andermann, D.
Amrom, J. Mulley, M. Bayly, M. Jomphe, S. Berkovic, F.
Andermann, L. Dibbens.
970W Brain abnormalities in individuals with Beckwith-
Wiedemann syndrome.
D. Chitayat, K. Gardiner, S.
Choufani, C. Shuman, S. Blaser, D. Terespolsky, P. Ray, B.
Baskin, R. Weksberg.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
971W Glut1 deficiency syndrome with a SLC2A1 spli
site mutation and normal erythrocyte glucose uptak
N. Ishihara, Y. Azuma, K. Yanagihara, S. Yokoi, T. Nakat
K. Aso, K. Ohno, J. Natsume.
972W Distinct de novo deletions in a brother-sister
pair with RTT: A case report.
K. Mittal, N. Gupta, M.
Kabra, R. Juyal, B. K. Thelma.
973W Identification of a novel recurrent microdeletio
at 2q11.2 associated with speech delay and ADHD.
Patel, P. Hixson, P. Stankiewicz, S. W. Cheung, P. I. Ba
974W Neonatal epilepsy as a presenting symptom o
infantile cerebral and cerebellar atrophy in a Caucas
Jewish child.
A. Singer, A. Shaag, D. Lev, C. Vinkler.
975W 46, XY pure gonadal dysgenesis and
pontocerebellar hypoplasia.
K. Siriwardena, A. Guerin,
Blaser, D. Chitayat.
976W Mutation in
MKI-67
in a family with intellectua
disability and microphthalmia.
M. Srour, M. E. Samuel
J. L. Michaud.
977W Description of a patient with characteristic
dysmorphic features and mental retardation
associated with FGF12 gene deletion.
L. Telvi, A.
Rouen, A. Coussement, J. M. Dupont, I. Desguerre, M.
Leroux.
978W Ramon syndrome in a 38-year-old male.
S. B.
Turyk, M. Sakurai, C. Galliuss, E. Maloberti.
979W Cutaneous manifestations in 9 patients with
biallelic germline MUTYH mutations.
F. Caux, A. Lévy
O. Schischmanoff, F. Coulet, F. Soubrier, Y. Parc, L.
Laroche, C. Colas.
980W A new case of Gorlin syndrome in Mexican
female.
N. Davalos, A. Rincon, C. Islas, R. Lopez, J.
Ontiveros, D. Garcia, S. Ramirez, J. Olmos, S. Alonso,
Genetic Variation Group.
981W Pulmonary anomalies in a novel syndrome of
macrocephaly, nephromegaly, and Wilms tumor
reveals mechanistic etiologies for overgrowth
syndromes.
J. A. Martinez-Agosto.
982W Gorlin syndrome: A familial case.
I. M. Salazar-
Dávalos, M. A. Aceves-Aceves, D. García-Cruz, N. O.
Dávalos, M. G. González-Mercado, J. A. Cruz-Ramos,
González-Mercado, S. A. Alonso-Barragán, C. Roa, I. P.
Dávalos.
983W Association between rs642961 and cleft lip an
palate in Patagonia (ECLAMC) population.
F. M. de
Carvalho, A. R. Vieira, F. Poletta, J. C. Mereb, R. F.
Fonseca, J. L. Camelo, E. E. Castilla, I. M. Orioli.