Congenital Microgastria and Primary Ciliary Dyskinesia in a Newborn with DiGeorge Syndrome and 22q11.2 Deletion

Filippi, Luca; Serafini, Lisa; Fiorini, Patrizio; Agostini, E.; Uzielli, Maria Luisa Giovannucci

doi:10.1055/s-2008-1038503

Cited by 6 publications

(6 citation statements)

References 14 publications

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“…The identical anomaly found in our siblings raises the possibility of a genetic aetiology. A 22q11.2 chromosome deletion has previously been reported in one newborn with congenital microgastria (Filippi et al , 2008). However, chromosomal analysis in our cases and another case reported in the literature was negative for this deletion on fluorescence in situ hybridization, and this link may therefore be coincidence.…”

Section: The Differential Diagnosis Of a Sonographically Absent Stomamentioning

confidence: 74%

Congenital microgastria: a rare cause of failure to visualise the fetal stomach

et al. 2011

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Section: The Differential Diagnosis Of a Sonographically Absent Stomamentioning

confidence: 74%

Congenital microgastria: a rare cause of failure to visualise the fetal stomach

et al. 2011

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“…Congenital microgastria is an early defect in the embryological development of the foregut and often associated with other anomalies, the most frequent being anomalies of the spleen and limbs. Both facial dysmorphisms and limb anomalies are often seen in syndromal disorders [5][6][7]9,[15][16][17][18]21,23,26,29,30,[33][34][35][36] ; however, only a few syndromal cases have been reported in the literature, for example, the Pierre Robin sequence. 23,30,33,35 The foregut starts to grow from the level of the pharynx, forming esophageal and gastric precursors as well as the lungs.…”

Section: Discussionmentioning

confidence: 99%

“…Anomalies that are part of these syndromes could cause a higher chance of mortality, and in some patients, they were the direct cause of death and not the presence of the microgastria. [8][9][10][11]21,26,29 The mortality rate of the C/LT group was significantly higher than in the EGS group. We suspect that this could be due to the fact that patients with this treatment had an a priori worse outcome assignable to their comorbidity and that no major surgery was considered.…”

Section: Discussionmentioning

confidence: 99%

Treatment of Congenital Microgastria

et al. 2020

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Introduction Congenital microgastria is an extremely rare birth defect. The aim of this study was to present an overview of existing literature on the treatment of microgastria. Materials and Methods The term “microgastria” was used in a PubMed and Medline search. Since merely case reports were found, only a narrative synthesis with limited statistical analysis can be given. Data of different treatment modalities were collected and divided into two groups: conservative or less invasive treatment (C/LT, i.e., modified diet or a gastrostomy/jejunostomy) and extensive gastric surgery (EGS, i.e., Hunt–Lawrence pouch or total esophageal gastric dissociation). Clinical outcome parameters (nutrition, growth pattern, and mortality) were compared. Results Out of 73 articles published from 1973 to 2019, 38 articles describing 51 cases were included. In four patients, microgastria was an isolated anomaly (8%). Type of treatment was described in only 46 patients, 19 were treated by C/LT. Mortality was 9/19 (47%) in the C/LT group versus 4/27 (15%) in the EGS group (chi-square = 5.829, p = 0.016, Fisher = 0.022). There was a negative correlation between the invasiveness of the treatment and both mortality (r = −0.356, p = 0.015) and comorbidity (r = −0.506, p <0.001). Patients in the C/LT group had significantly more comorbidity than in the EGS group (mean = 4.32 vs. 2.26, p = 0.001). There was a positive correlation between comorbidity and mortality (r = 0.400, p = 0.006). Median follow-up was 42 months (range: 1–240). Type and way of nutrition were poorly described. In at least 9 of the 33 surviving patients, oral feeding was reported as normal, of whom 8 belonged to the EGS group. In all patients, growth could be acknowledged, but in comparison to peers, final body length was less. There was no difference in final body length between the two treatment groups. Conclusion In patients with congenital microgastria, only minimal differences in clinical outcome in terms of type of nutrition and body growth were found when C/LT was compared with treatment by EGS. Mortality was significantly higher in the first group as well as the amount of comorbidities.

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“…It is an early malformation of the distal foregut [2,4,7]. Associated malformations are very common, including asplenia; congenital heart disease; lung sequestration; laryngotracheal cleft; esophageal atresia; midgut malrotation; renal, limb, and central nervous system malformations; Pierre-Robin syndrome; and DiGeorge syndrome [2][3][4][5][7][8][9][10][11]. A genetic cause has been postulated [2,3,12].…”

Section: Discussionmentioning

confidence: 99%

“…Congenital microgastria (CM) is an extremely rare anomaly of the caudal part of the foregut [1][2][3][4][5][6][7]. CM occurs either as an isolated anomaly or, more frequently, in association with other malformations [8].…”

Section: Introductionmentioning

confidence: 99%