Mosaic trisomy 22 associated with total colonic aganglionosis and malrotation

Hall, T.; Samuel, Madan; Brain, Jeffrey

doi:10.1016/j.jpedsurg.2008.09.032

Cited by 10 publications

(17 citation statements)

References 16 publications

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“…Of the 66 cases 2,3,5–9,11–16,18–22,24–27,29–35,42,43,45–49,51–53,55,57–61,63–68 that reported the sex of the infant, 37 (56.1%) 2,6,8,9,12,13,19–22,25,26,29,31–35,42,47,51,52,58,60,63,66,67 were males. Seven (8.0%) infants 12,14,17,29,48,51,54 were part of a dichorionic diamniotic twin pregnancy whilst one (1.1%) infant 4 was from a monochorionic diamniotic pregnancy.…”

Section: Resultsmentioning

confidence: 99%

“…In all cases of multiple pregnancy only one twin was affected. Birth weight was reported for 61 infants 2,3,5–9,11,12,14,16,18–22,24–27,29–35,42,43,45–49,51–54,57–59,63–68 —the mean birthweight was 2400.2 g (SD 628.4). Of these, 11/61 (18.0%) 16,19,24,46–48,51,53,57 were classified as SGA.…”

Section: Resultsmentioning

confidence: 99%

“…Three (3.4%) foetuses 29,43,52 underwent prenatal paracentesis for foetal ascites, and 1 (1.1%) 27 underwent diagnostic cordocentesis. Following delivery, 71 (80.7%) cases 2–4,6–9,12–15,17–22,24–27,29–31,33–35,42–49,51–54,56–61,63–66 had recorded timeframes for treatment of volvulus. Fifty‐three (53/71, 74.6%) of these infants 2,4–8,14–17,19–21,24–26,30,31,33–35,42–47,49,51,52,54–59,63 were treated immediately after birth or within 24 h of age.…”

Section: Resultsmentioning

confidence: 99%

“…Overall, 68/71 (95.8%) infants underwent postnatal surgery within 72 h. The remaining three cases 27,53,60 were treated by day 10, day 39 and 7 months of life (spontaneous volvulus secondary to undiagnosed malrotation). Out of a total of 79 surgically treated neonates, stoma creation with secondary anastomosis was undertaken in 25 (31.6%) cases 2,5,12–14,19,20,29,31,42,46,47,49,51,54,56,57,66 . Fifteen neonates (15/79, 19.0%) 5,8,14,27,29,47,50,54,57,65–67 required additional surgery for bowel obstruction, perforated ileus and stoma failure.…”

Section: Resultsmentioning

confidence: 99%

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Prenatal imaging features and perinatal outcomes of foetal volvulus–A literature review

et al. 2022

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Objective To conduct a review of the literature on foetal volvulus with emphasis on prenatal imaging, pregnancy characteristics and clinical outcomes. Methods A review of all published cases of foetal volvulus diagnosed prenatally and indexed in Medline, EBSCOhost, CINAHL, SOCIndex and Healthy Policy Reference Centre. Studies without antenatal sonographic signs of foetal volvulus and without a postpartum surgical diagnosis were excluded. Data were analysed for frequencies and distributions and tested for statistical significance. Results Eighty‐eight cases of foetal volvulus were identified from 58 published case reports/series. The most common ultrasound findings were dilated bowel/stomach (77.3%), polyhydramnios (30.7%) and whirlpool/snail sign (28.4%). Median gestation at diagnosis was 31.9 weeks (IQR 27–34) and mean gestation at delivery was 34.5 weeks (SD 2.8). Underlying aetiology included intestinal malrotation (15.9%), cystic fibrosis (14.8% of all cases, 32.5% of tested cases) and abnormal mesenteric fixation (12.5%). Complications included intestinal atresia (36.4%) and foetal anaemia (9.1%). The overall perinatal mortality rate was 14.5%. Conclusion Foetal volvulus is a rare condition with high rates of preterm birth and perinatal mortality. Intestinal malrotation and cystic fibrosis are common predisposing causes, although the majority are idiopathic. Bowel and/or gastric dilatation is by far the most common sonographic finding.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Prenatal imaging features and perinatal outcomes of foetal volvulus–A literature review

et al. 2022

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“…Adicionalmente, se han descrito casos de trisomía 22 tipo mosaico asociado a enfermedad de Hirschprung, alteraciones anatómicas a nivel del oído interno y tres casos de pacientes con desarrollo cognitivo normal (18,(21)(22)(23). Por consiguiente, es posible que existan casos de trisomía 22 tipo mosaico con mínimos hallazgos al examen físico y desarrollo cognitivo adecuado que no sean diagnosticados (24).…”

Section: Discussionunclassified

Trisomía 22 en un recién nacido de 39 semanas

Ávila

Fernández

Linares

et al. 2014

nova

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En este reporte presentamos el caso de un paciente masculino nacido de 39 semanas, producto de tercera gestación (dos abortos anteriores) de madre de 38 años y padre de 46 años. Las características clínicas del paciente incluyen macrocefalia, fontanela anterior amplia con diástasis de sutura sagital, escleras grisáceas, pabellones auriculares displásicos de implantación baja, raíz nasal corta, pliegue simiano en mano derecha e hirsutismo. Se obtienen tomografía axial computarizada de cráneo y resonancia magnética cerebral que presentan agenesia de cuerpo calloso y dilatación del asta occipital de los ventrículos laterales.El cariotipo en sangre periférica evidencia trisomía parcial del cromosoma 22 (47, XY+22, del (22) (q11.2qter)). El paciente requirió 7 días de hospitalización y se da egreso hospitalario en buenas condiciones generales pero con un retardo psicomotor severo e hipotonía generalizada. Dadas las malformaciones estructurales severas que se presentan en este síndrome, los embarazos a término y la supervivencia postnatal de los niños con trisomía 22 son eventos muy raros. El caso de este paciente complementa otros reportes ilustrando que la trisomía 22 puede sobrevivir más allá del nacimiento.

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