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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
Genetics: caused by the presence of an extra copy of chromosome 13. Other changes in chromosome 13, such as translocation, can also result in the characteristics classified as Patau syndrome. Complete, partial or mosaic forms of trisomy 13 can occur. Mosaic trisomy 13 occurs in only 5% of all patients.
Keratoconus in a child with partial trisomy 13
Published in Ophthalmic Genetics, 2021
Julia Ernst, Amgad Eldib, Hannah L. Scanga, Ken K. Nischal
Patau syndrome (complete trisomy 13) is a rare abnormality that manifests as a triad of microphthalmia, cleft lip and palate, and polydactyly. Most patients present at birth with severe malformations leading to early death. However, in incomplete trisomy 13, patients may show a few dysmorphic features and relatively normal development (1). Patients usually require multiple medical treatments by different specialists. The frequently described ocular manifestations are microphthalmia, uveal tract colobomas, retinal dysplasia, persistence and hyperplasia of the primary vitreous body, cataract and lens luxation (2). To our knowledge, keratoconus has not been reported in a patient with complete, mosaic or partial trisomy 13. Keratoconus is characterized by progressive thinning and cone-shaped protrusion of the cornea, leading to progressive visual impairment (3). It is mostly a sporadic disorder with major risk factors including eye rubbing, atopy, systemic disorders and contact lens use. Clinical studies suggest genetic components in its etiology, but the contributing alleles remain elusive (3).
Efficacy of Prenatal Ultrasound in Craniospinal Malformations According to Fetopathological and Postnatal Neonatological, Pathological Results
Published in Fetal and Pediatric Pathology, 2018
Fanni Rebeka Eros, Atene Simonyi, Zsolt Tidrenczel, Istvan Szabo, Janos Rigo, Artur Beke
In 15 fetuses, malformations of the CNS were associated with a chromosomal abnormality. In 9/15 (60%) of these fetuses, malformations were fully diagnosed with ultrasound. In 2 cases (13.3%), the diagnosis was only partial, while in the remaining 4 fetuses (26.7%), malformations were not diagnosed before birth or abortion. In seven cases, craniospinal anomalies were associated with Trisomy 21 (Down syndrome). Trisomy 13 (Patau syndrome) affected 5 fetuses, whereas Trisomy 18 (Edwards syndrome) appeared in 1 patient. Also, there was one case with the ring formation of the X chromosome.
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
Trisomy 18 (Edward Syndrome) and Trisomy 13 (Patau Syndrome) are also relatively frequently diagnosed in the context of fetal hydrops. Both are multisystem disorders with Edward syndrome characteristically recognized by the ultrasound demonstration of clenched hands and ‘rocker-bottom feet’. Midline defects are prominent in Patau syndrome with holoprosencephaly and cyclopia seen in addition to multisystem abnormalities. Fetal hydrops develops in 14% of fetuses with trisomy 18 and 3% of those with trisomy 13 [102].