OSD is a severe condition in which the dogs show a variety
of skeletal malformations, including shortened limbs (dwarfism), and blindness at an early age; the blindness results from a generalized malformation of the retina that causes a partial or full retinal detachment and cataracts.
Not exact matches
The genomic results confirmed Ata's Chilean descent and turned up a slew
of mutations in seven genes that separately or in combinations contribute to various bone deformities, facial
malformations or
skeletal dysplasia, more commonly known as dwarfism.
However,
malformation of skeletal bones during embryogenesis also occurs in FOP patients and illustrates that the underlying genetic mutation occurs in a gene with functional importance in regulating chondro - osseous differentiation during embryonic
skeletal development as well as in adult musculoskeletal tissues.
As an example,
skeletal malformations and dysplasias, often detected through routine prenatal ultrasound examination, constitute a phenotypic finding in more than 300 syndromic and non-syndromic disorders and their genetic etiology may be due to a wide variety
of genetic aberrations, ranging from copy number variations to single gene mutations.
Research Interests: Molecular control
of cell fate from stemness to differentiated
skeletal and neuronal cell types; SOX transcription factors;
skeletal malformation and degeneration diseases; intellectual disability and autism spectrum disorders; mouse genetic models; human pluripotent stem cell differentiation models in vitro
A dysmorphology database
of multiple
malformations; metabolic, teratogenic, chromosomal, and
skeletal syndromes; and their images.
Safety considerations in the design and interpretation
of clinical trials indicates that «some animal studies have suggested the potential for dose - dependent fetal toxicities (for example, growth impairment,
skeletal malformations and cardiovascular anomalies) associated with excess Vitamin D supplementation.
Some lines have had problems with pectus excavatum, a
malformation of the
skeletal structure in the upper body.
Attempting to overcome
skeletal malformation by soft - tissue reconstruction alone is the most frequent cause
of failure.
If your child was born with any
of the Depakote birth defects like spina bifida, cleft palate, hand deformation, heart
malformation,
skeletal defects, or hypoplasia you may be eligible for compensation.