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Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Thanatophoric dysplasia is one of the lethal dwarfisms. Rhizomelia involves shortening of a proximal segment relative to a distal segment, for example the humerus or femur, as described in this case. Achondroplasia, thanatophoric dysplasia and chondrodysplasia punctata can be examples of this.
Genetic Disorders, Dysplasias and Malformations
Published in Louis Solomon, David Warwick, Selvadurai Nayagam, Apley and Solomon's Concise System of Orthopaedics and Trauma, 2014
Louis Solomon, David Warwick, Selvadurai Nayagam
This is the classic example of chondrodysplasia, and the commonest form of abnormally short stature. It is inherited as an autosomal dominant trait, but because most of the affected individuals do not have children, new cases usually appear sporadically due to gene mutation.
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
Warfarin embryopathy is considered a phenocopy of chondrodysplasia punctata X-linked recessive (CDPX1), a genetic disorder caused by mutations in the gene ARSE (arylsulphatase E). It has been demonstrated that arylsulphatase E activity is inhibited in vitro by warfarin. For features of chondrodysplasia punctata, see p. 272.
Genetic disease is a common cause of bilateral childhood cataract in Denmark
Published in Ophthalmic Genetics, 2021
Line Kessel, Daniella Bach-Holm, Moug Al-Bakri, Laura Roos, Allan Lund, Karen Grønskov
Eleven children were found to have cataract related to metabolic disease. Metabolic investigations performed because of cataracts led to a diagnosis in one child who had bilateral dense cataract as the presenting sign of type 1 diabetes mellitus. In three children, metabolic disease was diagnosed prior to cataract: two with galactosemia and one with glycogen storage disease. Genetic work-up led to identification of two siblings with cerebrotendineous xanthomatosis (CTX) and one child with neuronal ceroid lipofuscinosis. As expected, routine metabolic investigations were normal in those with CTX. In addition, two siblings were diagnosed with chondrodysplasia punctata because of classic presentation and a known family history. One child with Lowe syndrome was found to have protein- and hematuria with excretion of most aminoacids and one child with a homozygous mutation in PEX11B was found to have deficiencies in the metabolism of very long chain fatty acids and DHA.
Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
Published in Fetal and Pediatric Pathology, 2018
Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park, Shin Yun Byun
Since there is no curative treatment available for TD, if prenatal ultrasonographic findings are almost definitive, termination of pregnancy based on consultation with the parent is usually the preferred treatment option. Early prenatal diagnosis of TD is possible based upon observation of the characteristic findings on ultrasonography performed during the second trimester of pregnancy. However, it might be difficult to distinguish the condition from other types of skeletal dysplasia, such as achondrogenesis, dyssegmental dysplasia, Silverman-Handmaker type, campomelic dysplasia, and rhizomelic chondrodysplasia punctate, based on ultrasonography alone. In such cases, molecular genetic analysis of the FGFR3 gene may be useful for prenatal diagnosis. Sawai et al. were the first to report on the prenatal diagnosis of TD by mutational analysis of the gene using amniocentesis (25). Prenatal diagnosis makes it possible to opt for elective abortion, which can help avoid subsequent difficulties, for example, difficult vaginal delivery due to hydrocephalus and cesarean section (10).
Novel use of the Cochlear® Hybrid CI24REH cochlear implant
Published in Cochlear Implants International, 2018
Yahya Atiya, Mohamed Razwi Ahmed, Dani Schlesinger-Michelow
Chondrodysplasia punctata is a heterogeneous group of skeletal dysplasia, grouped with dwarfism and other causes of short stature. There are two types – rhizomelic and non-rhizomelic (Braverman et al. 1993–2016a, 1993–2016b; Dempsey et al. 1993–2016). The rhizomelic form is autosomal, and is much more severe. Three non-rhizomelic genetic types are described, all X-linked, one dominant and two recessive. The dominant type is lethal in male infants. Abnormalities range from subtle, to gross skeletal, skin, and ophthalmological manifestations. Mental retardation is possible but not common in X-linked types (Braverman et al. 1993–2016a). Although mixed hearing loss has been described, it is usually of a conductive type (Braverman et al. 1993–2016b).