The combination of features is compatible with a syntelencephaly subtype of holoprosencephaly
was an expected finding in the fetus diagnosed with Patau syndrome (trisomy 13), although the other associated anomalies (such as polydactyly, flexion of the fingers, heart defects, facial clefting and neural tube defects ) were not identified.
Almost never Can find facial/ (brain) midline anomalies that are consistent with diagnosis.
Veterinarians said the kitten suffered from a rare disorder called holoprosencephaly
The youngster suffers from Holoprosencephaly
, a major defect of brain formation where, instead of normal brain tissue, the skull is swelled with extra cerebral spinal fluid.
Her pregnancy had been diagnosed as an alobar holoprosencephaly
, which in her case implied serious brain damage that was very likely to cause the fetus to be stillborn or to die shortly after birth.
Chapters cover: chromosomal translocations and fusion genes in human soft tissue, carrier screening for B-Thalassemia, genetic testing for late-onset disorders, lobar holoprosencephaly
and behavioral disorders, medullary thyroid cancer as a paradigm for genetic screening of inherited cancers, and learning disabilities in low birth weight children.
One such example is "sonic hedgehog," a gene linked to holoprosencephaly
Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly
The prevalence of holoprosencephaly
varies considerably depending on the point during gestation at which it is measured.
Prenatal diagnosis of alobar holoprosencephaly
by two-dimensional and three-dimensional ultrasound.
It comes four years after the death of Laura's first child which was born with an extremely rare condition known as holoprosencephaly