scholarly journals Adducted thumbs-arthrogryposis syndrome, Christian type

2020 ◽  
Author(s):  
Keyword(s):  
Adducted Thumbs

scholarly journals X-Linked Hydrocephalus

1986 ◽  
Vol 13 (4) ◽  
pp. 344-346 ◽  
Author(s):  
Ruben I. Kuzniecky ◽  
Gordon V. Watters ◽  
Lise Watters ◽  
Kathleen Meagher-Villemure
Keyword(s):  
Aqueductal Stenosis ◽  
French Canadian ◽  
Secondary Compression ◽  
Two Generations ◽  
Adducted Thumbs ◽  
Recessive Transmission

ABSTRACT:Two French-Canadian families with seven cases of hydrocephalus in two generations are presented. The pattern of inheritance is consistent with an X-linked recessive transmission. The clinical and pathologic characteristics of this entity are reviewed. The anomaly of adducted thumbs was present in one patient and its cause is considered. The hypothesis of primary hydrocephalus and secondary compression of the aqueduct as the mechanism for aqueductal stenosis is discussed.

The adducted thumbs syndrome

2008 ◽  
Vol 2 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Joe C. Christian ◽  
P. A. Andrews ◽  
P. M. Conneally ◽  
Jans Muller
Keyword(s):  
Adducted Thumbs

Novel Missense Mutation in the L1 Gene in a Child With Corpus Callosum Agenesis, Retardation, Adducted Thumbs, Spastic Paraparesis, and Hydrocephalus

2000 ◽  
Vol 15 (4) ◽  
pp. 239-243 ◽  
Author(s):  
László Sztriha ◽  
Philippe Frossard ◽  
Robert M.W. Hofstra ◽  
Edwin Verlind ◽  
Michael Nork
Keyword(s):  
Corpus Callosum ◽  
Missense Mutation ◽  
Spastic Paraparesis ◽  
Corpus Callosum Agenesis ◽  
Adducted Thumbs

Autosomal dominant inheritance of adducted thumbs and other digital anomalies

2008 ◽  
Vol 54 (1) ◽  
pp. 83-85 ◽  
Author(s):  
A. Miranda ◽  
J. C. Zenteno ◽  
E. Santiago ◽  
S. Kofman-Alfaro
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Adducted Thumbs

CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

1995 ◽  
Vol 3 (5) ◽  
pp. 273-284 ◽  
Author(s):  
Erik Fransen ◽  
Vance Lemmon ◽  
Guy Van Camp ◽  
Lieve Vits ◽  
Paul Coucke ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Single Gene ◽  
Spastic Paraparesis ◽  
Clinical Spectrum ◽  
Adducted Thumbs

Heterogeneity in adducted thumbs sequence

1997 ◽  
Vol 70 (2) ◽  
pp. 114-117 ◽  
Author(s):  
M. Moldavsky ◽  
T. Lerman-Sagie ◽  
M. Kutai ◽  
C. Legum ◽  
S. Harel
Keyword(s):  
Adducted Thumbs

scholarly journals A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

2007 ◽  
Vol 15 (6) ◽  
pp. 638-645 ◽  
Author(s):  
Eva Morava ◽  
Renate Zeevaert ◽  
Eckhard Korsch ◽  
Karin Huijben ◽  
Suzan Wopereis ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Common Mutation ◽  
Adducted Thumbs

scholarly journals Erratum: A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

2007 ◽  
Vol 15 (7) ◽  
pp. 819-819
Author(s):  
Eva Morava ◽  
Renate Zeevaert ◽  
Eckhard Korsch ◽  
Karin Huijben ◽  
Suzan Wopereis ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Common Mutation ◽  
Adducted Thumbs

scholarly journals The C. elegans L1CAM homologue LAD-2 functions as a coreceptor in MAB-20/Sema2–mediated axon guidance

2008 ◽  
Vol 180 (1) ◽  
pp. 233-246 ◽  
Author(s):  
Xuelin Wang ◽  
Wei Zhang ◽  
Thomas Cheever ◽  
Valentin Schwarz ◽  
Karla Opperman ◽  
...  
Keyword(s):  
Axon Guidance ◽  
Cell Adhesion Molecule ◽  
Neuronal Development ◽  
Genetic Data ◽  
Axon Pathfinding ◽  
Spastic Paraplegia ◽  
C Elegans ◽  
Adducted Thumbs ◽  
L1 Cell Adhesion Molecule

The L1 cell adhesion molecule (L1CAM) participates in neuronal development. Mutations in the human L1 gene can cause the neurological disorder CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus). This study presents genetic data that shows that L1-like adhesion gene 2 (LAD-2), a Caenorhabditis elegans L1CAM, functions in axon pathfinding. In the SDQL neuron, LAD-2 mediates dorsal axon guidance via the secreted MAB-20/Sema2 and PLX-2 plexin receptor, the functions of which have largely been characterized in epidermal morphogenesis. We use targeted misexpression experiments to provide in vivo evidence that MAB-20/Sema2 acts as a repellent to SDQL. Coimmunoprecipitation assays reveal that MAB-20 weakly interacts with PLX-2; this interaction is increased in the presence of LAD-2, which can interact independently with MAB-20 and PLX-2. These results suggest that LAD-2 functions as a MAB-20 coreceptor to secure MAB-20 coupling to PLX-2. In vertebrates, L1 binds neuropilin1, the obligate receptor to the secreted Sema3A. However, invertebrates lack neuropilins. LAD-2 may thus function in the semaphorin complex by combining the roles of neuropilins and L1CAMs.

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