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Vitiligo Vulgaris
Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
Kabuki syndrome is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenital heart defects, limb and skeletal anomalies, and short stature. Associated autoimmune abnormalities are idiopathic thrombocytopenic purpura, hemolytic anemia, thyroiditis, and vitiligo [33].
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
Ocular coloboma: Renal coloboma syndrome (papillorenal syndrome) also presents with renal abnormalities and occasional hearing loss, but no other malformations; it is caused by mutations in the gene PAX2. Cat-eye syndrome is caused by a chromosomal anomaly (supernumerary invdup(22)(q11)) and is typically characterised by the association of colobomas, rectal atresia with fistula, urogenital and cardiac malformations and preauricular tags or pits. Joubert syndrome presents with cerebellar vermis aplasia/ hypoplasia and the typical ‘molar tooth sign’ on neuroimaging; also has polydactyly and fibrosis of the kidney and liver. Coloboma associated with growth retardation and cardiac anomalies can sometimes be found in Kabuki syndrome, which shows very distinctive facial features.
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review
Published in Ophthalmic Genetics, 2021
Chong Kun Cheon, Hee Young Choi, Su Hwan Park, Jae Ho Jung, Su Jin Kim
Kabuki syndrome (KS) is a rare congenital anomaly/intellectual disbability disroder (1/32,000 births) and it was first described independently by Niikawa et al (1). and Kuroki et al (2). in 1981. In the last decade, mutations in KMT2D and KDM6A were identified as a major cause of kabuki syndrome. The cardinal manifestations of the syndrome include postnatal growth retardation, dysmorphic facial features (long palpebral fissures with eversion of the lateral third of the lower eyelids; arched and broad eyebrows; large, prominent ears; and short columella with depressed nasal tip), skeletal anomalies (including brachydactyly, vertebral anomalies, hip dysplasia and clinodactyly), dermatoglyphic abnormalities (fetal fingertip pads) and intellectual disability (typically in the mild to moderated range) (3–6).
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
Kabuki Syndrome is a well-recognized multiple malformation syndrome characterized by intellectual impairment, facial dysmorphism, short stature, persistent fetal finger pads as well as cardiac, vertebral and renal malformations [162]. Mutations in KMT2D cause autosomal dominant Kabuki syndrome, but it is becoming clear that there is an emerging phenotype, distinct from classical Kabuki, that has a more severe fetal presentation [163,164]. It is not a common cause of fetal hydrops.
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion
Published in Ophthalmic Genetics, 2018
Anne-Marie Hinds, Elisabeth Rosser, M. Ashwin Reddy
KDM6A [location Xp11.3, MIM 300128] is one of the rare causative genes in Kabuki syndrome which consists of characteristic facial features, vertebral anomalies, and neonatal hypoglycemia. The latter two signs were present in our case. Chorioretinal coloboma and retinal telangiectasia are also among the retinal signs that have been associated with this syndrome (7) but not peripheral retinal avascularity.