Trisomy 18 Edwards Syndrome

Caracteristicas Sindrome Edwards

Trisomy 18, initially identified in 1960,83 causes serious birth defects including a low birth weight microcephaly a characteristic facies with fawnlike ears, micrognathia, high arched palate, a narrow bifrontal diameter, and prominent occiput hypertonicity poor muscle development hand flexion with overlapping of second and fifth fingers and limited hip abduction (Fig. 3-10). Rocker-bottom feet, webbing of toes, and dorsiflexion of a short great toe are common. Renal anomalies including...

Dermoids and Dermolipomas

Dermoids are choristomas (histologically normal tissue in an abnormal location) and are thought to represent arrest or inclusions of epidermal and connective tissues (surface ectoderm and neural crest cells). They may be associated with abnormal closure of the optic fissure. This collection of epidermal and connective tissue can occur at the limbus (limbal dermoid), in the conjunctiva (dermolipoma), and subcutaneously in and around the orbit. The most common location of subcutaneous periorbital...

Trisomy 21 Downs Syndrome

The most common trisomy among live births is chromosome 21 or Down's syndrome, deriving its eponym from Langdon Down, who first described the clinical features in 1866.79 Systemic findings include hypotonia brachycephaly a large protruding tongue small nose with a low, small bridge small, poorly defined ears short, thick neck stubby hands with a single palmar crease clinodactyly of fifth digit with hypoplasia of mid-digital phalanges short, stubby feet with a wide gap between first and second...

Sclerocornea

Sclerocornea is a condition in which the junction between the cornea and sclera is indistinct. Additionally, the cornea appears FIGURE 1-28. Photograph of congenital corneal opacity involving the temporal half of the cornea. Handheld slit lamp examination revealed iris strands to the cornea, flat peripheral cornea, and a blending of sclera and cornea in the periphery. The diagnosis is anterior chamber dysgenesis syndrome, including sclerocornea, cornea plana, and Peter's anomaly. FIGURE 1-28....

Tunica Vasculosa Lentis

Lens Fetal Eyes

The lens receives nutrition and blood supply from the hyaloid artery, a branch of the primitive ophthalmic artery. The hyaloid artery first enters the eye through the optic fissure see Fig. 1-12 and then becomes incorporated into the center of the optic nerve as the optic fissure closes. The hyaloid vessels form a network around the posterior lens capsule and then anastomose anteriorly with the network of vessels in the pupillary membrane Fig. 1-16 . The pupillary membrane consists of vessels...