Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape.

BackgroundMorbidity and mortality are higher for cardiac reoperations than first operation due to the presence of post-operative adhesions. We retrospectively evaluated the efficacy of the bioresorbable membrane Seprafilm® to prevent pericardial adhesions after cardiac surgery in a paediatric congenital heart disease population.MethodsSeventy-one children undergoing reoperations with sternotomy redo and cardiopulmonary bypass for congenital malformations were included. Twenty-nine of these patients were reoperated after previous application of Seprafilm® (treatment group). The duration of dissection, aortic cross clamping and total surgery were recorded. A tenacity score was established for each intervention from the surgeon’s description in the operating report.ResultsIn multivariate analysis, the duration of dissection and the tenacity score were lower in the treatment than control group (p < 0.01), independent of age and interval since preceding surgery.ConclusionOur results suggest that Seprafilm® is effective in reducing the post-operative adhesions associated with infant cardiac surgery. We recommend the use of Seprafilm® in paediatric cardiac surgery when staged surgical interventions are necessary.

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PURPOSEThe distinction between physiologic (innocent) and pathologic (organic) heart murmurs is not always easy in routine practice, leading too often to unnecessary cardiology referrals and expensive investigations. We aimed to test the hypothesis that the complete disappearance of murmur on standing can exclude cardiac disease in children.METHODS From January 2014 to January 2015, we prospectively included 194 consecutive children aged 2 to 18 years who were referred for heart murmur evaluation to pediatric cardiologists at 2 French medical centers. Heart murmur characteristics while supine and then while standing were recorded, and an echocardiogram was performed.RESULTS Overall, 30 (15%) of the 194 children had a pathologic heart murmur as determined by an abnormal echocardiogram. Among the 100 children (51%) who had a murmur that was present while they were supine but completely disappeared when they stood up, only 2 had a pathologic murmur, and just 1 of them needed further evaluation. Complete disappearance of the heart murmur on standing therefore excluded a pathologic murmur with a high positive predictive value of 98% and specificity of 93%, albeit with a lower sensitivity of 60%.CONCLUSIONS Disappearance of a heart murmur on standing is a reliable clinical tool for ruling out pathologic heart murmurs in children aged 2 years and older. This basic clinical assessment would avoid many unnecessary referrals to cardiologists. 2017;15:523-528. https://doi.org/10.1370/afm.2105. Ann Fam Med INTRODUCTIONH eart murmur is a clinical finding currently affecting about 65% to 80% of schoolchildren 1,2 and one of the most common reasons for referral to cardiologists. Most murmurs are physiologic (innocent) 3 and result from the normal pattern of blood flow through the cardiac cavities and vessels. In a few cases, however, the murmur may be the single symptom of cardiac disease, even if most congenital heart diseases are diagnosed before birth or during the first year of life. 1Differences between physiologic and pathologic murmurs are well known, 4-9 but primary care physicians in family medicine or pediatricians too frequently refer their patients to pediatric cardiologists because they fear missing a heart disease diagnosis, resulting in unneeded parental anxiety, time consumption, and expensive evaluations. 10,11 Several clinical features of the murmur such as intensity, timing, quality and pitch, and the presence of a click are subjective and require extensive training for use to distinguish between physiologic and pathologic murmur. A simple, objective, and robust clinical test to exclude cardiac disease in apparently healthy children could prevent many unnecessary referrals.McLaren et al 12 reported that the prevalence of physiologic heart murmur in schoolchildren was 65% when they were in a supine position, whereas it was only 15% when they were standing. To our knowledge, however, no study has demonstrated that the disappearance of murmur 524on standing can allow clinicians to rule out a murmur ...