Bambino Gesu Pediatric Hospital

Rome, Italy

Bambino Gesu Pediatric Hospital

Rome, Italy
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News Article | July 14, 2017
Site: news.yahoo.com

FILE - This April 1, 2016 file photo shows a view of the Vatican-run Bambin Gesu' pediatric hospital, in Rome. On Thursday, July 13, 2017 Vatican prosecutors indicted the former president and ex-treasurer of the Vatican-run children's hospital for allegedly diverting money from the hospital's foundation to pay for renovations on a top cardinal's apartment. (AP Photo/Andrew Medichini, files) VATICAN CITY (AP) — The scandal was remarkable even by Vatican standards: The president of the "pope's hospital" for sick children had taken nearly a half-million dollars in hospital donations and used them to spruce up the penthouse apartment of the Vatican cardinal who had appointed him. On Thursday, the Vatican tribunal indicted Giuseppe Profiti and the hospital's former treasurer on charges they illegally diverted the money, and ordered them to stand trial. The case answers a key question raised by a recent Associated Press investigation that found that the hospital's mission under Profiti's leadership had been lost and was "more aimed at profit than caring for children." So where did the money go? According to the indictment, at least some 422,000 euros ($481,000) in donations to the fundraising foundation of the Bambino Gesu Pediatric Hospital — popularly known as the "pope's hospital" — went instead to renovate the penthouse of Cardinal Tarcisio Bertone, who retired in 2013 as the second most powerful man in the Catholic Church. Profiti acknowledged the payment, but said it was an investment so the hospital could use Bertone's apartment, with its enormous rooftop terrace overlooking St. Peter's Basilica and the Vatican gardens below, for fundraising events to benefit sick children. Bertone, who had appointed Profiti as president of the hospital in 2008, denied knowledge of the payment and said he had paid some 300,000 euros for the renovations out of his own pocket. That suggested the construction company was either paid twice for the work or that Bertone paid for some of it, and the hospital foundation the rest. Regardless, the total payout came to nearly three-quarters of a million euros (dollars) to renovate a retired cardinal's apartment and the leaky rooftop terrace above it, all in the shadow of the two-room hotel suite where Pope Francis lives and preaches his "church of the poor and for the poor" gospel. Significantly, Bertone wasn't charged or even placed under investigation, even though he personally benefited from the diverted money. Nor were the Castelli Re construction company or its owner, Gianantonio Bandera, though Bandera was referenced as having received the "illegally" diverted funds. The trial of Profiti and Massimo Spina, the former hospital treasurer, is scheduled to open on Tuesday. The apartment is owned by the Vatican, but was assigned to Bertone for his personal use after he retired as the Vatican's secretary of state under Pope Benedict XVI. Located on the edge of the Vatican gardens next to the Domus Santa Marta hotel where Pope Francis lives, the third-floor apartment has been the source of endless speculation ever since the diverted hospital funds were revealed in 2015. Bertone has defended its relatively large size — some 3,230 square feet (300 square meters) — by saying other cardinals have even bigger apartments and that he lives there with a secretary and three nuns who help care for him, and that he needed the space for his archive and library. While denying any wrongdoing, Bertone nevertheless made a 150,000-euro "donation" to the hospital, whose name in English means Baby Jesus, to make up for the reputational damage it incurred as a result of the scandal. Profiti resigned suddenly as president of the hospital in January 2015, nine months into a new three-year term. According to the AP investigation, a secret Vatican-authorized task force had concluded in 2014 that under his administration, the hospital's mission had been "lost" and was "substituted by an attitude aimed almost exclusively at profit." The AP inquiry found that children sometimes paid the price as the medical center expanded its specialized services, increased volume and tried to cut costs, with overcrowding and poor hygiene contributing to deadly infections. One extremely drug-resistant superbug outbreak that wore on for nearly two years killed eight children in the hospital's cancer ward. The hospital has called the AP report a "hoax" and denied problems. The current Vatican secretary of state, Cardinal Pietro Parolin, has said some issues were "truly unfounded" but acknowledged there were past problems at the hospital that the current administration was working to fix. Profiti, who now heads a small medical clinic in southern Campania, said in a May 29 interview that he told Vatican prosecutors that none of the money used for the renovations had been intended for the health care of children. He laughed when told of the results of the 2014 Vatican-authorized task force investigation and called it "rumor." Profiti was not in his office on Thursday, a secretary said, and he didn't respond to an email seeking comment. Through his lawyer, Bertone declined to comment out of respect for the Vatican judiciary. After the task force turned in the results of its three-month investigation in April 2014, the Vatican ordered a second in-house clinical assessment into childcare at the hospital. After a three-day visit in early 2015, that investigation found the hospital in many ways was "best in class." At the same time, a Vatican-ordered external audit by PricewaterhouseCoopers confirmed that the hospital's mission had been "modified in the last few years" to focus on expansion and commercial activities without sufficient governance controls. The audit, portions of which were obtained by the AP, flagged particular problems with the fundraising foundation, which Profiti headed. PwC found that five years after it was created, the foundation still didn't have an executive committee, audit board or organizational model as called for by its statutes. Its operating costs in 2012 included 145,000 euros in compensation to its board, of which 109,000 euros was paid in cash to its general secretariat. The audit also found that the foundation paid 24,000 euros to rent a helicopter to ferry Bertone to a hospital-related opening in southern Italy, and recommended that the hospital define policies about what types of expenses could be allowed and how much cash to have on hand. Flagging the problems as requiring immediate action, PwC suggested that the hospital revamp the board and appoint an executive committee "considering the not-for-profit mission of the Bambino Gesu foundation and the reputational risk associated to its activities for ... the Holy See." The audit and details of the funds diverted for the Bertone apartment renovation were first revealed in a 2015 book, "Avarice," by Italian investigative journalist Emiliano Fittipaldi. Fittipaldi and another Italian journalist were subsequently put on trial at the Vatican for having obtained leaked documents. The court ultimately ruled it had no jurisdiction to prosecute them. In an email to AP on Thursday, Fittipaldi said it "seemed strange" that Bertone wasn't even placed under investigation in the case, given that letters published in his L'Espresso magazine show that Bertone was well aware the foundation was interested in renovating the apartment. However, in the letter exchange, Bertone also made clear he didn't want the foundation to pay for the construction. "I'm just sorry that Bertone was allowed to stay in his penthouse, while the journalist who discovered the scandal ended up on trial," Fittipaldi said. "Different standards for different people."


News Article | July 17, 2017
Site: news.yahoo.com

FILE - In this Tuesday, Nov. 24, 2015 file photo, Italian journalists Gianluigi Nuzzi and Emiliano Fittipaldi talk to reporters outside the Vatican City from the Perugino gate. Other than St. Peter's Basilica, there's hardly better real estate in this tiny city state than the sprawling penthouse apartment in the Vatican gardens, where the rooftop terrace has in-your-face views of the dome itself and overlooks the Vatican hotel that Pope Francis calls home. (AP Photo/Gregorio Borgia, File) VATICAN CITY (AP) — Other than St. Peter's Basilica, there is hardly better real estate in Vatican City than the sprawling penthouse apartment in the Vatican gardens, where the rooftop terrace has in-your-face views of the dome itself and overlooks the hotel that Pope Francis calls home. The 300-square-meter (3,230-square-foot) bachelor pad, belonging to the previous pope's second-in-command, looked even better after undergoing a 422,000-euro ($481,000) face-lift. Who footed the bill? The Bambino Gesu Pediatric Hospital foundation, which raises money for sick children at the "pope's hospital" in Rome. A recent Associated Press investigation uncovered a secret 2014 Vatican probe that found that the hospital's mission under its past administration had become "more aimed at profit" than patient care. Now the renovations at Cardinal Tarcisio Bertone's flat have sparked a criminal trial that shines a light on how some of that money was spent. The Vatican on Tuesday will put its past hospital president, Giuseppe Profiti, and former hospital treasurer, Massimo Spina, on trial on charges they diverted hospital donations to renovate Bertone's retirement fixer-upper. If found guilty of embezzlement, the pair face between three to five years in prison and fines starting at 5,000 euros. The penalty can be reduced if the amount diverted is repaid before the trial starts. The scandal is the latest to strike the Holy See as Francis works to clean up centuries of shady business dealings in the walled-in, 44-hectare offshore city state, the world's smallest. And it comes as Francis copes with the fallout from the embarrassing exit of his top financial adviser, Cardinal George Pell, who returned to his native Australia last week to face trial on sex abuse charges. Profiti, appointed hospital president by Bertone in 2008, has said the 422,000 euros in hospital foundation funds he used to spruce up Bertone's home was an investment, since he intended to use it for fundraising events for the hospital. "The presence of Your Illustrious Eminence as a guest at these events would be a guarantee of a certain success in terms of participation and relative economic and institutional return," Profiti wrote Bertone in a Nov. 7, 2013 letter pitching the idea. He proposed that the soirees take place in Bertone's own home, with its glorious views and close-to-the-pope pedigree, to "give a further sense of exclusiveness and privilege" to potential benefactors. Bertone readily agreed, replying the following day that he would take care to ensure that "third parties" — and not the foundation — would pay for any renovations. Whatever happened to those "third parties" is unclear, but Bertone spent 300,000 euros of his own money for the work on top of the 422,000 that came from the foundation. Bertone's successor as Vatican secretary of state, Cardinal Pietro Parolin, has said the trial is evidence of the transparency Pope Francis wants to bring to the Catholic Church's finances. "And it's only right that everyone accounts for his or her own behavior," Parolin said last week when the indictments were handed down. Bertone wasn't charged or placed under investigation, even though he personally benefited from the donations. After the scandal broke in 2015, Bertone made a 150,000-euro "donation" to the hospital for research, but insisted he had no idea the foundation had paid for his flat repair. Also spared were the Castelli Re construction company and its owner, Gianantonio Bandera, a longtime Bertone associate who received around 800,000 euros for the whole project. The indictment accuses Profiti and Spina of a conspiracy to "illicitly use money belonging to the Baby Jesus foundation to benefit Bandera." The indictment, however, makes no suggestion of kickbacks or any other wrongdoing, merely that money belonging to the hospital foundation instead went to "completely extra-institutional" uses. Profiti has told AP none of the donations were intended for childcare. Spina's lawyer, Alfredo Ottaviani, said the expenses for the renovations were in the "general interest" of the foundation for fundraising purposes, and that regardless, his client had no authority to make any decisions about how the money was spent. It wasn't the first time the foundation's cash had been used for eyebrow-raising ends: In 2012, the foundation headed by Profiti spent 24,000 euros to ferry Bertone by helicopter to southern Potenza to open a branch of Bambino Gesu. Profiti justified the expense in terms of Bertone's busy schedule. Bertone's apartment is owned by the Vatican, but was assigned to Bertone for his personal use after he retired in 2013. Located on the edge of the Vatican gardens, the third-floor apartment in the Palazzo San Carlo sits just across the street from the hotel where Francis preaches his "church of the poor and for the poor" gospel from a two-room suite. Ironically, Bertone's downstairs neighbor is the Vatican's financial intelligence agency. Bertone has defended his apartment's size by saying other cardinals have even bigger apartments and that he lives there with a secretary and three nuns who help care for him, and that he needed the space for his archive, library and chapel. His former boss, Pope Benedict XVI, has occupied similarly prime real estate on the other side of the Vatican gardens, taking over an entire converted monastery with his household staff following his retirement. Profiti resigned suddenly as president of the hospital in January 2015, nine months into a new three-year term. According to the AP investigation, a secret Vatican-authorized task force concluded in 2014 that under his administration, the hospital's mission had been "lost" and was "today more aimed at profit than on caring for children." Also in 2014, a Vatican-ordered external audit by PricewaterhouseCoopers confirmed that the hospital's mission had been "modified in the last few years" to focus on expansion and commercial activities without sufficient governance controls. The audit, portions of which were obtained by the AP, found that five years after it was created, the hospital foundation still didn't have an executive committee, audit board or organizational model as called for by its statutes. The audit and details of the Bertone apartment renovation were first revealed in a 2015 book, "Avarice," by Italian investigative journalist Emiliano Fittipaldi. Fittipaldi and another Italian journalist were subsequently put on trial at the Vatican for having obtained leaked Vatican documents. The court ultimately ruled it had no jurisdiction to prosecute them, primarily because they weren't Vatican public officials. Profiti and Spina were employed by the Vatican-owned Bambino Gesu and headed its affiliated fundraising foundation. The Vatican tribunal, which roughly follows the Italian penal code, has jurisdiction over crimes committed on Vatican territory, or by Vatican citizens or public officials. The prosecutors' request for indictment identifies the pair as "public officials" of the foundation, and accuses them of committing a crime on Vatican territory between November 2013 and May 28, 2014, presumably when the foundation paid a series of bills to the construction company. In April of last year, Fittipaldi published the exchange of letters between Profiti and Bertone detailing Profiti's proposal to use the cardinal's apartment for fundraising. "I'm just sorry that Bertone was allowed to stay in his penthouse, while the journalist who discovered the scandal ended up on trial," Fittipaldi said in an email last week. "Different standards for different people."


Right ventricular failure (RVF) is a significant issue when considering left ventricular assist device (LVAD) implantation in pediatrics. The aim of this study was to evaluate the effects of LVAD on right ventricular (RV) function in children. We retrospectively reviewed clinical and echocardiographic data of children who underwent Berlin Heart EXCOR LVAD focusing on RV function before and after implantation (1, 3, and 6 month follow-up). An isolated LVAD was used in 27 patients. Median age was 11 months (interquartile range [IQR]: 5–24 months), with a median weight of 6.3 kg (IQR: 5–9 kg). Median time on ventricular assist device (VAD) support was 147 days (IQR: 86–210 days). Twenty patients were successfully bridged to OHT (74%), six patients died (22%), and also heart function recovered in one patient (4%). Before LVAD implantation, nine patients (33%) showed a RV fractional area change (RVFAC) less than or equal to 30%. After implantation, mean RVFAC increased up until the 3 month follow-up (43.13%; p = 0.033) and then slightly decreased. In a subgroup of 18 patients, the average strain value increased after the 1 month follow-up (p = 0.022). Right ventricular failure developed in 33% of patients before the 1 month follow-up, and 7.4% experienced RVF at the 6 month follow-up. No patient required biventricular assist device (BiVAD). In our population, pulsatile-flow LVAD in children allows optimal RV decompression and function post-LVAD as measured by improvement in RV function at echo particularly at 1 and 3 month follow-up. At long-term follow-up, the beneficial effects of LVAD on RV function seem to be reduced as signs and symptoms of late RVF may develop in some patients despite LVAD support. Copyright © 2017 by the American Society for Artificial Internal Organs


Murgia F.,Bambino Gesu Pediatric Hospital
La Clinica terapeutica | Year: 2011

In this study we describe and discuss the way we daily act in remote telematic tracking of CF outpatients, a procedure which has been improved through our daily experience in telehomecare. Currently, there are almost 30 patients involved in our telehomecare project. We describe and discuss intervention parameters and the way we manage a register of performances in spreadsheet format. We also describe the training program for the patients and their and the procedures through which we maintain contacts with patients and Vivisol assistance and the periodical satisfaction surveys. (from 15 of february 2010 to 24 of may 2011). Total transmissions 882, Spirometry 1317, SaO2 291, Compliance (transmissions/patient days) 8,91%, Hospital controls 19, Total contacts 722, Phone calls 494. We analyze the 2010 - 2011 data. We discuss the compliance of patients toward Telehomecare, the efficacy of cell phone in establishing contact with patients and the relevancy of symptoms' rescue in diagnosing the pulmonary relapse episodes. We discuss medico-legal aspects of telemedicine activity, in the light of standards and legislation, including issues related to the processing of privacy and security data. We discuss the professional team needs and requirements, dedicated to the activities of telemedicine and procedures related to clinical risk management. We conclude by underlying how telemedicine represents a promising new tool for patients and health professionals, and that under certain conditions it can improve the assistance, working conditions and also to reduce costs. However, its usage has to be followed by precise studies about its efficacy, and also by paying particular attention to the partly new issues that derive from it.


Ciofetta G.,Bambino Gesu Pediatric Hospital
Quarterly Journal of Nuclear Medicine and Molecular Imaging | Year: 2010

Gastroesophageal reflux represents a physiological phenomenon in the first year of life. The reflux associated with clinical complications is defined as "gastroesophageal reflux disease" (GERD), that may be esophageal or extra-esophageal, as is for respiratory problems. Nuclear medicine investigations have given an important contribution to the diagnostic assessment and therapeutical management of GERD in children, by means of the following procedures: scintigraphy of the gastroduodenal transit and reflux detection, scintigraphic quantification of gastric emptying, scintigraphy of the esophageal transit, radioisotopic salivagram, scintigraphy of lung perfusion, ventilation and of mucociliary clearance. All of these investigations are among die less irradiating nuclear medicine procedures, therefore particularly adapted to paediatrics. The main clinical advantages of this body of information include: improvements in the management of many asthmatic children, surgical anti-reflux intervention success-rate increase, prompt regional lung alterations detection for preventing stable tissue damage, and many others.


Crostelli M.,Bambino Gesu Pediatric Hospital
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society | Year: 2013

The association of scoliosis and spondylolisthesis is well documented in literature; the nature and modalities of the relationship of the two pathologies are variable and not always clear. Also, etiologic particulars of scoliosis associated with spondylolisthesis are not well defined, even in cases where scoliosis is called idiopathic. In this paper, we review previous literature and discuss the different aspects of the mutual relationship of scoliosis and spondylolisthesis in the adolescent age. It is a common notion that the highest occurrence of scoliosis associated with spondylolisthesis is at the lumbar level, both in adolescent and in adult patients. It is probable that the scoliosis that is more heavily determined by the presence of spondylolisthesis is at the lumbar level and presents curve angle lower than 15° Cobb and mild rotation. The scoliosis with curve value over 15° Cobb that is present at the lumbar level in association with spondylolisthesis probably is not prominently due to spondylolisthesis: in these cases, spondylolisthesis is probably only partially responsible for scoliosis progression with a spasm mechanism and/or due to rotation of slipping "olisthetic" vertebra. We think that the two pathologies should be treated separately, as stated by many other authors, but we would highlight the concept that, whatever be the scoliosis curve origin, spasm, olisthetic or mixed together, this origin has no influence on treatment. The curves should be considered, for all practical effects, as so-called idiopathic scoliosis. We think that generally patient care should be addressed to treat only spondylolisthesis or only scoliosis, if it is necessary on the basis of clinical findings and therapeutic indications of the isolated pathologies, completely separating the two diseases treatments. Scoliosis should be considered as an independent disease; only in the case of scoliosis curve progression over time, associated scoliosis must be treated, according to therapeutic principles of the care of any so-called idiopathic scoliosis of similar magnitude, and a similar approach must be applied in the case of spondylolisthesis progression or painful spondylolisthesis.


Putignani L.,Bambino Gesu Pediatric Hospital | Menichella D.,Bambino Gesu Pediatric Hospital
Interdisciplinary Perspectives on Infectious Diseases | Year: 2010

Cryptosporidium spp. are coccidians, oocysts-forming apicomplexan protozoa, which complete their life cycle both in humans and animals, through zoonotic and anthroponotic transmission, causing cryptosporidiosis. The global burden of this disease is still underascertained, due to a conundrum transmission modality, only partially unveiled, and on a plethora of detection systems still inadequate or only partially applied for worldwide surveillance. In children, cryptosporidiosis encumber is even less recorded and often misidentified due to physiological reasons such as early-age unpaired immunological response. Furthermore, malnutrition in underdeveloped countries or clinical underestimation of protozoan etiology in developed countries contribute to the underestimation of the worldwide burden. Principal key indicators of the parasite distribution were associated to environmental (e.g., geographic and temporal clusters, etc.) and host determinants of the infection (e.g., age, immunological status, travels, community behaviours). The distribution was geographically mapped to provide an updated picture of the global parasite ecosystems. The present paper aims to provide, by a critical analysis of existing literature, a link between observational epidemiological records and new insights on public health, and diagnostic and clinical impact of cryptosporidiosis. Copyright © 2010 L. Putignani and D. Menichella.


Crostelli M.,Bambino Gesu Pediatric Hospital | Mazza O.,Bambino Gesu Pediatric Hospital
European Spine Journal | Year: 2013

Introduction The association of scoliosis and spondylolisthesis is well documented in literature; the nature and modalities of the relationship of the two pathologies are variable and not always clear. Also, etiologic particulars of scoliosis associated with spondylolisthesis are not well defined, even in cases where scoliosis is called idiopathic. In this paper, we review previous literature and discuss the different aspects of the mutual relationship of scoliosis and spondylolisthesis in the adolescent age. Materials and methods It is a common notion that the highest occurrence of scoliosis associated with spondylolisthesis is at the lumbar level, both in adolescent and in adult patients. It is probable that the scoliosis that is more heavily determined by the presence of spondylolisthesis is at the lumbar level and presents curve angle lower than 15° Cobb and mild rotation. The scoliosis with curve value over 15° Cobb that is present at the lumbar level in association with spondylolisthesis probably is not prominently due to spondylolisthesis: in these cases, spondylolisthesis is probably only partially responsible for scoliosis progression with a spasm mechanism and/or due to rotation of slipping "olisthetic" vertebra. Discussion We think that the two pathologies should be treated separately, as stated by many other authors, but we would highlight the concept that, whatever be the scoliosis curve origin, spasm, olisthetic or mixed together, this origin has no influence on treatment. The curves should be considered, for all practical effects, as so-called idiopathic scoliosis. We think that generally patient care should be addressed to treat only spondylolisthesis or only scoliosis, if it is necessary on the basis of clinical findings and therapeutic indications of the isolated pathologies, completely separating the two diseases treatments. Conclusions Scoliosis should be considered as an independent disease; only in the case of scoliosis curve progression over time, associated scoliosis must be treated, according to therapeutic principles of the care of any socalled idiopathic scoliosis of similar magnitude, and a similar approach must be applied in the case of spondylolisthesis progression or painful spondylolisthesis. © Springer-Verlag 2012.


Manco M.,Bambino Gesu Pediatric Hospital | Dallapiccola B.,Bambino Gesu Pediatric Hospital
Pediatrics | Year: 2012

Onset of obesity has been anticipated at earlier ages, and prevalence has dramatically increased worldwide over the past decades. Epidemic obesity is mainly attributable to modern lifestyle, but family studies prove the significant role of genes in the individual's predisposition to obesity. Advances in genotyping technologies have raised great hope and expectations that genetic testing will pave the way to personalized medicine and that complex traits such as obesity will be prevented even before birth. In the presence of the pressing offer of direct-to-consumer genetic testing services from private companies to estimate the individual's risk for complex phenotypes including obesity, the present review offers pediatricians an update of the state of the art on genomics obesity in childhood. Discrepancies with respect to genomics of adult obesity are discussed. After an appraisal of findings from genome-wide association studies in pediatric populations, the rare variant-common disease hypothesis, the theoretical soil for next-generation sequencing techniques, is discussed as opposite to the common disease-common variant hypothesis. Nextgeneration sequencing techniques are expected to fill the gap of "missing heritability" of obesity, identifying rare variants associated with the trait and clarifying the role of epigenetics in its heritability. Pediatric obesity emerges as a complex phenotype, modulated by unique gene-environment interactions that occur in periods of life and are "permissive" for the programming of adult obesity. With the advent of next-generation sequencing techniques and advances in the field of exposomics, sensitive and specific tools to predict the obesity risk as early as possible are the challenge for the next decade. Copyright © 2012 by the American Academy of Pediatrics.


Dentici M.L.,Bambino Gesu Pediatric Hospital | Mingarelli R.,Bambino Gesu Pediatric Hospital | Dallapiccola B.,Bambino Gesu Pediatric Hospital
American Journal of Medical Genetics, Part A | Year: 2011

Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. We report on two siblings, a 6-year-old girl and an 18-month-old male, presenting with overlapping clinical findings. Major characteristics included facial dysmorphisms with upward slanted palpebral fissures, blepharophimosis, telecanthus, hypertelorism, posteriorly rotated and abnormal ears, and micrognathia. Ectodermal abnormalities consisted of fine hair, sparse eyebrows, and thin skin. Both patients had feeding difficulties with gastro-esophageal reflux and growth retardation. Psychomotor skills were severely delayed with no verbal capacity. The male sib also displayed low growth hormone (GH) levels, while the older sister had low cholesterol and mildly elevated TSH levels. Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden-Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disorders were considered. We concluded that these two patients are affected by a possible autosomal recessive condition within the heterogeneous clinical spectrum of BMRS, fitting with the Young-Simpson syndrome subtype. © 2011 Wiley-Liss, Inc.

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