Xiaoqian Ye,Ali B Attaie
Xiaoqian Ye
Human dentition development is a long and complex process which involves a series of reciprocal and sequential interactions between the embryonic stomodeal epithelium and the underlying neural crest-derived mesenchyme. Despite environment d...
Craig Gendron,Ann Schwentker,John A van Aalst
Craig Gendron
Microtia is a genetic condition affecting the external ears and presents clinically along a wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely affected ears lack all identifiable structures, with the ...
Julie Plaisancie,Patrick Calvas,Nicolas Chassaing
Julie Plaisancie
Congenital ocular anomalies such as anophthalmia and microphthalmia (AM) are severe craniofacial malformations in human. The etiologies of these ocular globe anomalies are diverse but the genetic origin appears to be a predominant cause. Un...
Bryn D Webb,Peter J Taub
Bryn D Webb
Mohammad Ali A Sadiq,Munib Ur Rehman
Mohammad Ali A Sadiq
The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic progressive external ophthalmoplegia harbor multiple mtDNA deletions that incl...
Gena Heidary
Gena Heidary
Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correc...
Behnaz Rouhani,Aparna Ramasubramanian
Behnaz Rouhani
Pediatric genetic ocular tumors include malignancies like retinoblastoma and phakomatosis like neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and nevoid basal cell carcinoma syndrome. It is important to screen for ocular...
Mica Y Bergman,Sudha Nallasamy
Mica Y Bergman
Genetic diseases of the macula and choroid have various inheritance patterns and varying degrees of impact on vision. Herein, we review the literature including most recent advances in the understanding of the genetics of these diseases. Al...
Emil Anthony T Say
Emil Anthony T Say
Hereditary pediatric retinal diseases are a diverse group of disorders with pathologies affecting different cellular structures or retinal development. Many can mimic typical pediatric retinal disease such as retinopathy of prematurity, vit...
Bharti R Nihalani
Bharti R Nihalani
Pediatric genetic disorders of lens include various cataractous and non-cataractous anomalies. The purpose of this review is to help determine the genetic cause based on the lens appearance, ocular and systemic associations. Children with b...