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Keywords: syndactyly
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Journal Article
Ekaterina Tarasova and others
Journal of Animal Science, Volume 99, Issue Supplement_3, November 2021, Page 227, https://doi.org/10.1093/jas/skab235.414
Published: 08 October 2021
... in herds can be increased, which can lead to the decrease of reproduction capacity and Bovine syndactyly is an autosomal monogenic reces- adaptability of animals. Our aim was to assess genomic sive trait associated with multiple mutations in the inbreeding in two Russian local cattle breeds, including LRP4...
Journal Article
M. Hassan Toufaily and others
American Journal of Clinical Pathology, Volume 145, Issue 1, January 2016, Pages 86–95, https://doi.org/10.1093/ajcp/aqv012
Published: 23 December 2015
.... The abnormalities identified by prenatal ultrasound included renal malformations, heart defects, hydrocephalus, holoprosencephaly, and myelomeningocele. At autopsy, syndactyly, usually between fingers 3 and 4, was identified in 37 (69%) of the fetuses. Thirteen (24%) of the infants had the histologic features...
Journal Article
EK Sannomiya and others
Dentomaxillofacial Radiology, Volume 35, Issue 2, 1 March 2006, Pages 119–124, https://doi.org/10.1259/dmfr/77056158
Published: 13 February 2014
... orthodontics in order to undergo maxillary advancement and expansion. In our first contact with the patient, our staff detected syndactyly of the hands and feet and cranial-maxillofacial deformities. The patient's mother underwent no trauma or infection during her pregnancy and did not report the use of drugs...
Journal Article
Mario Impallomeni and others
Age and Ageing, Volume 35, Issue 6, November 2006, Pages 642–643, https://doi.org/10.1093/ageing/afl109
Published: 01 November 2006
... (cryptophthalmos, syndactyly and abnormal genitalia) and five minor criteria (malformations of the nose and ears, cleft lip and palate, skeletal defects and renal agenesis). A recent review [ 3 ] showed that the majority of the deaths in Fraser syndrome occur in the first week of life and ∼50% are stillbirths...
Journal Article
M. Mempel and others
British Journal of Dermatology, Volume 140, Issue 6, 1 June 1999, Pages 1157–1160, https://doi.org/10.1046/j.1365-2133.1999.02881.x
Published: 01 June 1999
... with the combination of aplasia cutis congenita (ACC) and transverse limb defects known as Adams Oliver syndrome. Whereas in the rst child the typical features of ACC, syndactyly and transverse nail dystrophy were only mildly expressed and associated defects of the central nervous system and cardiac malformations...
Journal Article
J. ROBERT SMYTH
Poultry Science, Volume 60, Issue 11, November 1981, Pages 2371–2373, https://doi.org/10.3382/ps.0602371
Published: 01 November 1981
... the F2 progeny of an outcross mating between two standard lines. The mutant phenotype is expressed by the simultaneous presence of syndactyly polydactyly, and ptilopody resulting from homozygosity for an autosomal recessive gene, psp. Less than 31% of the mutants hatched, with the rest dying...
Chapter
Published: 01 June 2016
.... Both single base pair mutations within the ZRS and chromosomal microduplications that give rise to tandem copies of the ZRS cause misexpression of SHH in the limb. The misexpression is responsible for a spectrum of defects in the limb including preaxial polydactyly, syndactyly...
Chapter
Published: 01 September 2015
... cleft repairs hypoplasia repairs syndactyly repairs vascular malformations mandibular repairs Angelman syndrome Beckwith Wiedemann syndrome Charcot Marie Tooth disease Ehlers Danos syndrome Nitrous oxide Noonan syndrome Apert syndrome Cleft palate Craniosynostosis Crouzon syndrome...
Chapter
Published: 09 April 2008
...0 09 04 2008 Feingold syndrome (FS) is a dominantly inherited syndrome with apparently full penetrance and variable clinical expression. Its most consistent features are microcephaly, with mental retardation in half of these cases, brachymesophalangy, clinodactyly, syndactyly of toes and short...
Chapter
Published: 01 January 2019
...Oxford University Press This chapter reviews background information about the incidence, risk factors, genetics, recurrence risk, epidemiology, and some subtypes of syndactyly. Various unilateral and bilateral patterns of syndactyly, including common autosomal dominant isolated cutaneous syndactyly...
Chapter
Published: 01 June 2016
.... The diagnosis of CLS is established on clinical findings and can be confirmed by molecular genetic testing of LRP4 in approximately 85% of families. Clinical management focuses on surgical syndactyly release, orthopedic aids, and surveillance of kidney function in patients with a kidney...
Chapter
Published: 01 August 2019
... such as syndactyly or congenital microtia may be part of a syndrome, and anaesthesia for surgery in these patients may present specific difficulties for the paediatric anaesthetist. Laser treatment for pigmented lesions or scars may present a challenging working environment, and anaesthesia for free flap...
Chapter
Published: 01 August 2016
... and corresponding increases in 7DHC. Distinctive facial features of include ptosis, small nose with anteverted nares, and micrognathia. Acral dysgenesis is common, foremost of which involve syndactyly and polydactyly. Children with SLOS often have a behavioral phenotype within the autism spectrum. Smith-Lemli-Opitz...
Chapter
Published: 01 October 2015
... and cosmetically significant and are often associated with other malformations or as part of recognizable syndromes. There are numerous genetic and nongenetic causes. Polydactyly Syndactyly Brachydactyly Oligodactyly Camptodactyly Split Hand/Foot Macrodactyly Digits Hands/Fingers Feet/Toes Apical...
End Matter
Published: 01 January 2019
... during infancy includes multiple system abnormalities such as cleft palate. post-axial polydactyly and Y shaped 2-3 toe syndactyly, poor feeding, hypotonia, and failure to thrive. Early demise can occur in severely involved infants but mildly affected patients may escape detection for months or years...
Chapter
Published: 01 August 2021
....   Pollicization of the index finger. Method and results in aplasia and hypoplasia of the thumb.   J Bone Joint Surg Am   1971 ; 53 :1605–17. Clarkson P.   Poland’s syndactyly.   Guys Hosp Rep   1962 ; 111 :335–46. Buck-Gramcko D.   Cleft hands: classification...
Chapter
Published: 09 April 2008
...0 09 04 2008 Fraser syndrome (FS) is a recessive multisystem disorder characterized by cryptophthalmos, cutaneous syndactyly, renal defects, and a range of other developmental abnormalities. More than 17 years ago the family of four mapped mouse “blebs” mutants were proposed...
Chapter
Published: 01 September 2018
.... There are, however, cultural and generational variations in the importance that parents associate with the appearance of a child’s hand. Children’s hand surgeons should consider the well-being of the child as paramount. • E.g. Division of syndactyly between digits of unequal length (e.g. ring and little fingers...