A New Trisomic Syndrome

Edwards, J. H.; Harnden, D. G.; Cameron, A. H.; Crosse, V.Mary; Wolf, O.H.

doi:10.1016/s0140-6736(60)90675-9

Cited by 570 publications

(197 citation statements)

References 8 publications

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“…Trisomy 18, first described by Edwards et al [1960], is the second most common autosomal trisomy in liveborn infants. Patients with trisomy 18 have prenatal-onset severe growth retardation, characteristic craniofacial features, various visceral and skeletal malformations, and significant psychomotor mental retardation [Carey, 2001].…”

Section: Introductionmentioning

confidence: 99%

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Kosho

Nakamura

Kawame

et al. 2006

American J of Med Genetics Pt A

176

200

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Management of neonates with trisomy 18 is controversial, supposedly due to the prognosis and the lack of precise clinical information concerning efficacy of treatment. To delineate the natural history of trisomy 18 managed under intensive treatment, we reviewed detailed clinical data of 24 patients with full trisomy 18 admitted to the neonatal intensive care unit of Nagano Children's Hospital, providing intensive treatment to those with trisomy 18, from 1994 to 2003. Cesarean, resuscitation by intubation, and surgical operations were performed on 16 (67%), 15 (63%), and 10 (42%) of the patients, respectively. Mechanical ventilation was required by 21 (88%), and 6 (29%) of them were extubated. Survival rate at age 1 week, 1 month, and 1 year was 88%, 83%, and 25%, respectively. Median survival time was 152.5 days. Respiration was not stabilized in two patients with left diaphragmatic eventration and hypoplasia accompanied by lung hypoplasia, even with maximal ventilation. The common underlying factors associated with death were congenital heart defects and heart failure (96%), followed by pulmonary hypertension (78%). The common final modes of death were sudden cardiac or cardiopulmonary arrest (26%) and possible progressive pulmonary hypertension-related events (26%). These data of improved survival, through neonatal intensive treatment, are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18. ß 2006 Wiley-Liss, Inc.

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Section: Introductionmentioning

confidence: 99%

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Kosho

Nakamura

Kawame

et al. 2006

American J of Med Genetics Pt A

176

200

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“…This was quickly followed by the discovery of sex chromosome abnormalities including 45X in Turner syndrome (14), 47XXY in Klinefelter (15), and other numerical abnormalities of sex chromosomes. Not long thereafter, other autosomal trisomies were discovered, primarily of chromosomes 13 (16) and 18 (17). Another class of chromosome aberrations found early in cytogenetics was a variety of patients who had mosaicism and had two or more chromosomally different cell lines in their bodies.…”

Section: Cytogeneticsmentioning

confidence: 99%

A History of Medical Genetics in Pediatrics

Rimoin

Hirschhorn

2004

Pediatr Res

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“…Amelogenesis imperfecta has never been reported in association with OI. Trisomy 18 or Edward's syndrome, which was first described in 1960 [6], is the second most common trisomy after trisomy 21. Its prevalence is estimated at 1 out of 6000-8000 births, but is actually higher because of the high rate of fetal mortality and abortion following prenatal diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Management of a patient with osteogenesis imperfecta and trisomy 18

Bontemps

Poulain

Landru

et al. 2017

Med Buccale Chir Buccale

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Keywords: trisomy 18 / osteogenesis imperfecta / amelogenesis imperfecta / dentinogenesis imperfecta / dental care Abstract --Trisomy 18 and osteogenesis imperfecta are serious diseases with multiple systemic complications. Osteogenesis imperfecta is usually associated with dentinogenesis imperfecta. Observation: A young woman consulted for dental care, with the family suspecting multiple caries because of yellow spots on her teeth. Medical history revealed trisomy 18 associated with osteogenesis imperfecta. The patient was quite uncooperative, even with tooth brushing at home. We provided care after the completion of clinical and radiographic examinations. The colorations were due to amelogenesis imperfecta. Discussion: The association between osteogenesis imperfecta and amelogenesis imperfecta has not been described in the literature. Moreover, the presence of an extra abnormality in tooth structure was a delicate situation for the family. This case suggests the link between amelogenesis imperfecta and osteogenesis imperfecta. Conclusion: This case is the first description of the association of amelogenesis imperfecta and osteogenesis imperfecta.

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A New Trisomic Syndrome

Cited by 570 publications

References 8 publications

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

A History of Medical Genetics in Pediatrics

Management of a patient with osteogenesis imperfecta and trisomy 18

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