Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

Costanzo, Sara; Spaccini, Luigina; Pio, Luca; Mattioli, Girolamo; Virgone, Calogero; Dall’Igna, Patrizia; Iacobelli, Barbara Daniela; Inserra, Alessandro; Brisighelli, Giulia; Fagnani, Anna Maria; Leva, Ernesto; Giannotti, G.; Cheli, Maurizio; Frumento, Paolo; Riccipetitoni, Giovanna

doi:10.1016/j.jpedsurg.2017.06.012

Cited by 16 publications

(12 citation statements)

References 27 publications

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“…In addition, sporadic cases of CS with a partial duplication of the long arm of the chromosome 3 but no MNX1 mutation have been reported in the literature [ 19 ]. Despite the extreme phenotipic variability observed in patients carrying the same mutation, as well as the incomplete penetrance in familiar cases, recent studies have tried to demonstrate an association between mutation type and severity of the phenotype [ 20 , 21 ].…”

Section: Discussionmentioning

confidence: 99%

“…The analysis of Merello E. et al [ 20 ], that reported a series of CS patients carrying only intragenic mutations, has failed to establish a clear genotype-phenotype correlation. On the other hand, a more recent multicentre Italian study has reported that the presence of a MNX1 anomaly, such as an intragenic mutation or a deletion, was associated to a more severe CS phenotype compared to cases in which no mutation was identified [ 21 ]. Moreover, according to Cuturilo G. et al [ 4 ], intragenic mutations of MNX1 are observed more frequently in patients with the classic Currarino triad and regular growth, normal intellect and facial appearance.…”

Section: Discussionmentioning

confidence: 99%

“…Instead, CS phenotypes characterized by growth delay and/or facial dimorphism and/or intellectual disability are often due to deletions of long arm of chromosome 7 containing MNX1 [ 4 ]. Indeed, MNX1 gene seems to be the main responsible factor for the expression and severity of the CS triad, while the associated anomalies appear to be determined by contiguous genes [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

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Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

et al. 2018

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BackgroundCurrarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis.Case presentationWe report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. Finally, a CGH-array analysis was performed and a form of Currarino Syndrome caused by a rare 7q36 microdeletion, was diagnosed.ConclusionOccult spinal dysraphism should be suspected in case of poor polyethylene glycol responder constipation, even when evident sacral abnormalities on the physical examination are not detected.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

et al. 2018

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“…Other malformations, most often urologic, can also be associated to the classic Currarino triad. 2 Autosomal-dominant loss-of-function mutations in the MNX1 gene, mapped at 7q36, cause nearly all familial and some (30%) sporadic cases of Currarino syndrome 1 Less frequently, a more complex phenotype (including intellectual disability, growth retardation, and facial dysmorphism) can be caused by microdeletions of 7q containing MNX1.…”

Section: Answer To: Image 2 (Page 1317): Currarino Syndromementioning

confidence: 99%

A Case of Constipation That Passed From Father to Son

Cananzi¹,

Colavito²,

Giorgi

2018

Gastroenterology

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A 3-year-old boy was referred for a history of constipation starting from the time of weaning at 6 months of age and consisting of 1-2 evacuations per week of mushy stools. No other symptoms were reported apart from the occurrence of soiling since potty training. Physical and neurologic examinations were normal. Familial history revealed that the father, during his first 3 months of life, received subsequent surgical interventions for the correction of rectal atresia causing intestinal obstruction and for the removal of a presacral ganglioneuroma associated with partial sacral agenesis. An abdominal ultrasound examination revealed a large pelvic anechoic formation requiring further investigations. Magnetic resonance imaging (Figure A, sagittal section, short T1 inversion recovery turbo spin echo; Figure B, coronal section, short T1 inversion recovery turbo spin echo) demonstrated a voluminous anterior meningocele (96 Â 64 Â 76 mm; red arrow) displacing the bladder (grey arrow), as well as rectal stenosis (lower yellow arrow) with sigmoid dilation (upper yellow arrow), syringomyelia of the conus medullaris (white arrow), and agenesis of S3/S4/S5 and coccyx (blue arrow). Based on this information, what is the most likely diagnosis? Look on page 1318 for the answer and see the Gastroenterology website (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and images in GI.

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“…23 Other important European multicenter studies have been coordinated by Italian centers, for example on minimal access adrenal surgery for adrenal pathologies, 24 laparoscopic treatment of pancreatic tumors, 25 the surgical correction technique of congenital Morgagni diaphragmatic hernia 26 ; finally, some important topics have been analyzed by multicenter studies on a national basis, such as bariatric procedures, 27 management of pediatric ovarian torsion and its recurrence, 28 phenotype-genotype correlation in Currarino syndrome. 29 In 2017, the first International Network of Pediatric Airway Teams (INPAT) was created, thanks to the initiative of the Otolaryngology and Pediatric Surgery groups of G. Gaslini Children's Hospital of Genoa. The first INPAT meeting was held in Genoa last March and was a great success, gathering specialists from all over the world.…”

Section: Italian Promoters Of Teamworkmentioning

confidence: 99%

Bella Italia: Specialized Pediatric Surgical Care in Italy

et al. 2017

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Italian pediatric surgery has a long history, rich in events, places, and personalities that make it unique. Our first pediatric surgical unit dates back to the first half of the 19th century and its number has grown exponentially during the following decades, with a maximum flowering in the years after the second world war.The rich history of pediatric surgery has not prevented it from facing important problems, such as the demographic crisis, underemployment of surgeons, and care of pediatric patients by adult specialists.The attempt to find solutions to these problems has led to a great deal of efforts not only by pediatric surgeons, but also by the Italian government and institutions, with the implementation of ministerial plans that favor the specificity and growth of our discipline through thematic and territorial networks, through more effective training and specialization plans, the cooperation between the Directors of Pediatric Surgical Units for a better coordination of care, the participation in European networks, such as the recently created ERNs (European Reference Networks).Many Italian pediatric surgeons are active in International Societies, as members or coordinators, in the design and management of multicenter studies and surveys and even in the creation of new international networks.The Italian response to the demand for specialization and centralization involves knowledge sharing, large-scale cooperation, transversal between specialists and vertical with governmental authorities for a better and more effective care of pediatric patients.

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Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

Abstract: II.

Cited by 16 publications

References 27 publications

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

A Case of Constipation That Passed From Father to Son

Bella Italia: Specialized Pediatric Surgical Care in Italy

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