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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.
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
Published in Fetal and Pediatric Pathology, 2022
Chondrodysplasia punctata disorders are related to the deficiency of cholesterol biosynthetic enzymes. Cholesterol is crucial for hedgehog signaling which is involved in chondrogenesis (proliferation and hypertrophy of chondrocytes) and ossification [29]. Two lethal entities were described in our series: Conradi-Hünermann-Happle syndrome and Greenberg dysplasia due to the deficiency of 3 beta-hydroxysteroid-delta 8, delta 7-isomerase and 3 beta-hydroxysterol delta 14-reductase, respectively. The distinctive histologic feature associated with these metabolic conditions is the presence of ectopic ossification centers within the cartilage that manifest as radiologic punctuations, either confined to epiphyses, spine, metarcapal and tarsal bones (Conradi-Hünermann-Happle syndrome), or diffuse giving the characteristic radiologic “moth-eaten” appearance of ribs and long bones (Greenberg dysplasia) [30–32]. Consistent with the alterations in chondrogenesis and ossification, major abnormalities of the growth plate and endochondral ossification, responsible for severe shortening of the long bones, are also observed. The growth plate exhibits severe disorganization of the columnar arrangement with poor proliferation and hypertrophy of chondrocytes (Conradi-Hünermann-Happle syndrome), or larger zones of chondrocyte degeneration and calcification (Greenberg dysplasia). The ossification is severely impaired with thick and poorly oriented metaphyseal trabeculae and very thin primary bone trabeculae [30–32].
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.
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).