Among the topics are inheritance patterns, ethical issues, primary congenital glaucoma and juvenile open angle glaucoma, Margan syndrome and other causes of ectopic lentis, familial exudative vitreoretinopathy, retinitis pigmentosa, cone-rod dystrophy, enhanced S-cone syndrome and other NR2ES-related retinal dystrophies, congenital stationary night blindness, optic nerve hypoplasia
, and Leber hereditary optic neuropathy.
9%) patients, main pulmonary artery hypoplasia
in 19 (9.
This is distinguished from incomplete development of the first and third arches which is thought to cause ICA hypoplasia
, also a rare entity.
3g of retinoic acid via yolk sac to induce a defective model of a thymus with hypoplasia
Additional unusual dental findings such as single-rooted funnel-shaped molars, reduced crown size, enamel hypoplasia
, supernumerary teeth, dental fusion, taurodontism, abnormal occlusal anatomy with wide grooves, and atypical cusps have been reported in most previous cases of this syndrome.
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia
Isolated foveal hypoplasia
(IFH) is a condition in which the fovea is characterized by the absence of foveal depression, pigmentation, and foveal avascular zone.
Variants of the A1 and A2 segments of the anterior cerebral artery: absence, hypoplasia
It includes hypoplasia
of the distal phalanges/nails, a 'finger-like' thumb, syndactyly, polydactyly, absent palmar creases and positional limb defects like club feet.
Treacher Collins Syndrome (TCS) is a rare, autosomal dominant disorder characterized by hypoplasia
of maxillary and mandibular bones, external ear abnormalities, preauricular hair displacements onto the cheeks, coloboma of the lower eyelid and absence of the lower eyelashes and conductive hear loss.
Besides, polysplenia syndrome concomitant with situs inversus totalis and distal pancreatic hypoplasia
are rare congenital anomalies.
or occlusion of arteries forming the aforementioned collateral segments are common as variations of incomplete CoW are presented in one third to one half of population [1, 2].