China
Africa
Explore chapters and articles related to this topic
Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
A rare developmental anomaly that may be associated with various syndromes: CHARGE syndrome (coloboma; heart defects; atresia choanae; retarded growth and development or central nervous system anomalies, or both; genital anomalies or hypogonadism, or both; and ear anomalies or deafness, or both); micro syndrome (microphakia, microphthalmos, characteristic lens opacity, atonic pupils, cortical visual impairment, microcephaly, and developmental delay); MIDAS (microphthalmia, dermal aplasia, and sclerocornea – also known as MLS) syndrome; oculodentodigital dysplasia. Multiple chromosomal abnormalities may be present.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Oculo-dento-digital dysplasia: similar facial features although milder, hypoplastic phalanges and IV–V syndactyly, ocular anomalies (microphthalmia, microcornea, glaucoma, cataract). Two forms are known, autosomal recessive and dominant, both caused by mutations in GJA1. The recessive form shows a more severe ocular phenotype than the dominant form.
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
Published in Expert Review of Neurotherapeutics, 2020
Mahmoud Reza Ashrafi, Man Amanat, Masoud Garshasbi, Reyhaneh Kameli, Yalda Nilipour, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli
The most common reported inheritance pattern among heritable white matter disorders is autosomal recessive (AR) (Supplemental Table 1). Other modes including autosomal dominant (AD) (e.g. Alexander disease (AxD)), X-linked recessive (XLR) (e.g. Pelizaeus‐Merzbacher disease (PMD)), and X-linked dominant (XLD) (e.g. Fragile X tremor/ataxia syndrome), were also described. Some conditions including oculodentodigital dysplasia (ODDD), adult polyglucosan body disease (APGBD), and Aicardi-Goutieres syndrome (AGS) can show both AR and AD inheritance patterns [13–16]. Sporadic forms of leukodystrophies were also reported (e.g. 18q syndrome, AGS, APGBD, and axonal spheroids and pigmented glia (ALSP)) [17–20]. Mitochondrial leukoencephalopathies are emerging as new chapter of leukodystrophies that also share different inheritance patterns.
Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review
Published in Ophthalmic Genetics, 2019
Zhirong Wang, Limei Sun, Panfeng Wang, Chonglin Chen, Aiyuan Zhang, Weiqing Wang, Xiaoyan Ding
The genomic etiology was not confirmed until 2003. GJA1 mutations which located on chromosome 6 (q21-q23.2) was confirmed to be the causative gene of ODDD by Paznekas et al findings from screening in 17 families with ODDD (1). So far, more than 60 mutations in GJA1 gene had been reported. The GJA1 gene comprises two exons and one intron, encodes gap junction protein connexin 43(Cx43), with molecular weights (MW) varying from 26 to 60 kilo Daltons, consisting four transmembrane domains, two extracellular loop domains, and intracellular loop and domains consisting of the amino and carboxyl termini (Figure 5) (14–16). It is a member of the connexin gene family that controls and coordinates cellular activities of ions, metabolites and secondary messengers like cAMP, Ca2þ, NADþ, and IP3 direct exchange in developmental processes (17,18). In eyes, Connexin 43 is localized in the outer pigmented cell layer of the ciliary body and pairs to the nonpigmented cell layer to form heterotypic junctions (18). Animal studies have concluded that a loss-of-function mutant of Cx43 could cause diverse retinal changes, including a lower number of ganglion cell, nuclear displacements into the inner plexiform layer, retinal disorganization, and dysplasia in a Gja1Jrt mouse model of human oculodentodigital dysplasia (19).