-
Craniometaphyseal dysplasia is a rare
skeletal disorder that
results from a
mutation in the ANKH or GJA1 genes. The
condition is
characterized abnormal...
- like
facies –
parkinsonism Leonine facies –
lepromatous leprosy or
craniometaphyseal dysplasia Mitral facies –
mitral stenosis Amiodarone facies (deep...
- Ardinger,
Holly H.; Pagon,
Roberta A.; Wallace,
Stephanie E. (eds.), "
Craniometaphyseal Dysplasia,
Autosomal Dominant", GeneReviews®,
Seattle (WA): University...
-
Craniodiaphyseal dysplasia,
autosomal dominant Cranioectodermal dysplasia Craniometaphyseal dysplasia Craniosynostosis D-2-hydroxyglutaric
aciduria Deficiency...
- ankylosis,
progressive homolog (mouse)". GeneReviews/NCBI/NIH/UW
entry on
Craniometaphyseal Dysplasia Human ANKH
genome location and ANKH gene
details page in...
- features. It is
probably a
variant of the
autosomal recessive type of
Craniometaphyseal Dysplasia.
Manifestations include enlarged viscera, hepatomegaly,...
-
lambdoid suture),
hyperostosis (an
excessive growth of bone) (such as
craniometaphyseal dysplasia, osteopetrosis).
Another pathophysiological mechanism by...
-
dysplasia Craniofrontonasal syndrome Teebi type
Craniometaphyseal dysplasia dominant type
Craniometaphyseal dysplasia recessive type
Craniomicromelic syndrome...
-
oxidative stress.
Mutations in this gene have been ****ociated with ODDD;
craniometaphyseal dysplasia;
sudden infant death syndrome,
which is
linked to cardiac...
- Deletion/duplication analysis. Pyle
disease may be
confused with
craniometaphyseal dysplasia. The two, however, are clinically, radiographically, and...
