Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinaseirisanterior segment dysgenesisoptical coherence tomographyPURPOSE. To determine the ocular consequences of a dominant-negative mutation in the p85 alpha subunit of phosphatidylinositol 3-kinase (PIK3R1) ...
Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffin–Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first...
[Sectorial racemose vascular malformation of the iris]. Klin Monbl Augenheilkd 1983; 183 (1): 50–52. Article CAS PubMed Google Scholar Prost M . Arteriovenous communication of the iris. Br J Ophthalmol 1986; 70: 856–859. Article CAS PubMed PubMed Central Google Scholar Shields JA,...
In 1970, a distinct pattern of malformation involving severe mental retardation, a characteristic facial appearance, sparse scalp hair with eyebrow and eyelash hypertrichosis, and absent fifth fingernails was described in 3 unrelated girls. Only 2 additional cases have been reported, suggesting that the...
It can occur as a single ocular finding, have a Mendelian mode of inheritance, be associated with a chromosomal abnormality, or be associated with other malformation syndromes (Box 95.4). Typical colobomas occur in the inferonasal quadrant, where the embryonic fissure closes. Because typical iris...
In 1970, a distinct pattern of malformation involving severe mental retardation, a characteristic facial appearance, sparse scalp hair with eyebrow and eyelash hypertrichosis, and absent fifth fingernails was described in 3 unrelated girls. Only 2 additional cases have been reported, suggesting that the...
Peter's anomaly, refers to a more severe spectrum of anterior segment malformation characterized by persistent sheets of mesenchyme and corneal and lens opacities (see Ch. 3). Degenerative, hyperplastic, and age-related conditions Iris atrophy (Fig. 9.6) • Iris atrophy is seen as an age-rel...
Case Report on Vein of Galen Malformation with Intranidal Aneurysm and Diverticulum The Role of Three-Dimensional Magnetic Resonance Spectroscopy in Diagnosing and Grading of Gliomas Autism Spectrum Disorder: Evaluating Historical and Current Trends through the lens of Neurodiversity The Neuroeducational Pers...
CSS is a rare congenital malformation syndrome characterized by developmental delay or intellectual disability (ID), coarse facial appearance, feeding difficulties, frequent infections, and hypoplasia/aplasia of the fifth fingernails and fifth distal phalanges. In 2012, 42 years after the first ...
MRKH is a congenital malformation in women charac- terized by a failure of the Mullerian ducts to develop, resulting in a missing uterus and variable malformations of the vagina. It may be isolated (type I) but it is more Goyal et al. Journal of Medical Case Reports 2010, 4:354 http:...