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1.
J Pediatr ; 239: 206-211.e1, 2021 12.
Article in English | MEDLINE | ID: mdl-34363815

ABSTRACT

OBJECTIVE: To evaluate the trends in hospitalizations for children with trisomy 18 over time and to determine the rate of invasive procedures on these children, using a large inpatient database. STUDY DESIGN: A retrospective analysis using the Kids' Inpatient Database from 1997 to 2016 was performed for trisomy 18. We evaluated survival to discharge as well as the presence of pulmonary, skeletal, neurologic, gastrointestinal, renal, and hematologic/bleeding problems. We also searched for the following interventions, if performed: gastrostomy tube placement, tracheostomy, or cardiac procedure. RESULTS: Over this period 10 151 admissions occurred in children with a diagnosis of trisomy 18. Between 1997 and 2016, the number of children admitted annually with trisomy 18 increased 74% from 1036 to 1798. The proportion of patients born prematurely remained stable at 14%-16% throughout the study. Gastrostomy tube placement increased 12-fold during the study period, tracheostomy increased 11-fold, and cardiac intervention increased 5-fold. The overall mortality rate decreased in those with trisomy 18 from 32% in 1997 to 21% in 2016. CONCLUSIONS: We highlight a decreased inpatient mortality rate during the study period. The number of children undergoing interventions such as gastrostomy tube and tracheostomy increased, as did the number of children undergoing cardiac intervention. Although the number of procedures has increased with the mortality rate decreasing, it is unclear at present whether the 2 are related.


Subject(s)
Cardiac Surgical Procedures/trends , Gastrostomy/trends , Hospitalization/trends , Practice Patterns, Physicians'/trends , Tracheostomy/trends , Trisomy 18 Syndrome/surgery , Adolescent , Child , Child, Preschool , Databases, Factual , Female , Humans , Infant , Infant, Newborn , Male , Retrospective Studies , Trisomy 18 Syndrome/complications , Trisomy 18 Syndrome/mortality , United States
2.
Ital J Pediatr ; 46(1): 120, 2020 Aug 27.
Article in English | MEDLINE | ID: mdl-32854736

ABSTRACT

BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying structures, in a localized or widespread area. The exact etiopathogenesis is not yet completely understood. Membranous ACC (MACC) also described as bullous or cystic ACC is a clinical subtype of ACC, covered with a membranous or glistening surface, and appears as a flat scar. There are less than 20 cases reported in the literature. It has been proposed an abortive form of a defective closure of the neural tube. On the other hand, the trisomy 18 is a chromosomal abnormality characterized by a broad clinical spectrum and the presence of defective closure of the neural tube. CASE PRESENTATION: We report on an 18-months-old Venezuelan boy, who presented on the parietal scalp a distinctive localized MACC appearing as an oval lesion covered with a membranous surface, characterized by the absence of hairs and the presence of a sharp hair collar. The karyotype in peripheral blood was 47,XY,+ 18. CONCLUSIONS: This is the second case report of ACC in trisomy 18 and reinforces the interpretation of a non-fortuitous association as well as of a defective closure of the neural tube as pathogenetic mechanism. The case highlights the importance of examining for dermatological alterations such as ACC in cases of chromosomopathy.


Subject(s)
Ectodermal Dysplasia/diagnosis , Ectodermal Dysplasia/etiology , Trisomy 18 Syndrome/complications , Trisomy 18 Syndrome/diagnosis , Humans , Infant , Male
3.
Medicina (Kaunas) ; 55(7)2019 Jul 08.
Article in English | MEDLINE | ID: mdl-31288482

ABSTRACT

Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.


Subject(s)
Dandy-Walker Syndrome/complications , Time Factors , Trisomy 18 Syndrome/complications , Child , Dandy-Walker Syndrome/diagnostic imaging , Dandy-Walker Syndrome/mortality , Female , Humans , Tomography, X-Ray Computed/methods , Trisomy 18 Syndrome/diagnostic imaging , Trisomy 18 Syndrome/mortality
4.
Arch. argent. pediatr ; 115(5): 282-286, oct. 2017. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-887377

ABSTRACT

La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.


The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.


Subject(s)
Humans , Male , Infant, Newborn , Trisomy 18 Syndrome/genetics , Klinefelter Syndrome/genetics , Aneuploidy , Trisomy 18 Syndrome/complications , Klinefelter Syndrome/complications
5.
Arch Argent Pediatr ; 115(5): e282-e286, 2017 Oct 01.
Article in Spanish | MEDLINE | ID: mdl-28895703

ABSTRACT

The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.


La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.


Subject(s)
Aneuploidy , Klinefelter Syndrome/genetics , Trisomy 18 Syndrome/genetics , Humans , Infant, Newborn , Klinefelter Syndrome/complications , Male , Trisomy 18 Syndrome/complications
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