Missed or delayed diagnosis of anorectal malformations: a review of the literature, current training and practice in the UK in relation to detection via the NIPE programme.

Anorectal malformations (ARMs) are a spectrum of congenital anomalies where there is abnormal development of the anus and rectum. With an incidence of 1:5000 live births and affecting both males and females, these anomalies vary in their appearance and presentation, lack features enabling antenatal detection and should be detected at birth by the examining midwife or within 72 hours through the newborn and infant physical examination (NIPE) screening programme. However, it is recognised that the diagnosis of ARMs can be missed or delayed leading to morbidity and mortality. In the UK, despite the existence of the NIPE screening programme and NICE guidelines, published literature shows that nearly a quarter of ARMs are not diagnosed at birth. This review takes a critical look at the frequency of missed/delayed diagnosis of ARMs at birth, the implications of delayed diagnosis, and the possible reasons for this related to education and training of healthcare professionals involved in newborn examination, focusing on the UK national screening programme for NIPE. We propose a strategy for enhancing detection of ARMs in a timely manner through the existing framework of the NIPE screening programme.

Evaluating Children With Metopic Craniosynostosis: The Cephalic Width-Intercoronal Distance Ratio.

OBJECTIVE: To identify an additional objective measure to aid in the evaluation of children with isolated metopic craniosynostosis. DESIGN: This is a retrospective study comparing specific computed tomography scan measurements between surgical and nonsurgical cohorts of children with isolated metopic craniosynostosis. Children were included if they were diagnosed with isolated metopic craniosynostosis and ultimately underwent computed tomography scan imaging as part of their evaluation. The subjects were placed in the surgical or nonsurgical cohorts on the basis of the final treatment recommendation after they completed a full multidisciplinary, multimodality evaluation. Comparisons were made with a control group of unaffected patients from our institutional trauma registry. SETTING: Tertiary academic institution. PATIENTS, PARTICIPANTS: The subjects are patients who had been previously evaluated in our clinic for isolated metopic craniosynostosis and received a computed tomography scan as part of their workup. RESULTS: The average intercoronal distances were significantly different among all three groups (P < .002). The average cephalic width-intercoronal distance ratio for children who received a recommendation for surgery differed significantly from that of both the observation cohort and the control group (P < .001). However, the cephalic width-intercoronal distance ratio did not differ between the observation cohort and the control group (P = .927). CONCLUSIONS: The cephalic width-intercoronal distance ratio may be an additional objective measurement to aid in the clinical evaluation of children with metopic craniosynostosis.

Intraoperative tissue expansion in the surgical correction of craniosynostosis.

BACKGROUND: Wound healing complications can occur after calvarial vault expansion due to tension on the scalp flaps. OBJECTIVES: To compare wound healing outcomes in patients with craniosynostosis undergoing calvarial vault expansion with and without intraoperative tissue expansion of the scalp. METHODS: The present analysis was an institutional review board-approved, retrospective cohort study involving 40 consecutive patients at the University of Missouri Hospitals and Clinics (Columbia, Missouri, USA) who underwent calvarial vault expansion for nonsyndromic craniosynostosis between June 1, 2009 and June 30, 2012. Patients were divided into two sequential cohorts: the first 20 underwent calvarial vault expansion without intraoperative tissue expansion; the second 20 underwent calvarial vault expansion with intraoperative tissue expansion. The main outcome measures included presence or absence of wound healing complications (persistent scabbing or slow-healing wounds, hardware exposure, need for operative wound revision or healed but widened scars), with documented postoperative follow-up of at least three months. The primary end point was the presence of a well-healed scar; the secondary end point was the need for an operative revision. RESULTS: Patients in the intraoperative tissue expansion group had a higher percentage of well-healed scars (73.6%) than those in the nonexpansion group (42.1%) (P=0.0487). This difference was primarily due to scar widening in the nonexpansion group. CONCLUSIONS: The present study demonstrated that the use of intraoperative tissue expansion in patients with nonsyndromic craniosynostosis who underwent calvarial vault expansion resulted in a greater likelihood of a well-healed incision with a lower rate of poor scarring.

HISTORIQUE: Après une expansion de la calotte crânienne, la cicatrisation peut être compliquée par la tension exercée sur les lambeaux du cuir chevelu. OBJECTIFS: Comparer les résultats de la cicatrisation chez des patients ayant une craniosténose soignée par expansion de la calotte crânienne accompagnée ou non d'une expansion peropératoire des tissus du cuir chevelu. MÉTHODOLOGIE: La présente analyse, une étude de cohorte rétrospective approuvée par le conseil d'examen de l'établissement, a été réalisée auprès de 40 patients consécutifs des hôpitaux et des cliniques de l'université du Missouri (Columbia, Missouri, États-Unis) qui ont été soignés pour une craniosténose non syndromique au moyen d'une expansion de la calotte crânienne entre le 1er juin 2009 et le 30 juin 2012. Les chercheurs ont divisé les patients en deux cohortes séquentielles. Les 20 premiers ont subi une expansion de la calotte crânienne sans expansion peropératoire des tissus et les 20 suivants, une expansion de la calotte crânienne accompagnée d'une expansion peropératoire des tissus. Les principales mesures de résultats incluaient la présence ou l'absence de complications de la cicatrisation (gales persistantes ou guérison ralentie, exposition à un corps étranger, nécessité d'une chirurgie corrective ou guérison, mais élargissement des cicatrices), étayée par un suivi postopératoire d'au moins trois mois. Le paramètre primaire était la présence d'une cicatrice bien guérie et le paramètre secondaire, la nécessité de procéder à une chirurgie corrective. RÉSULTATS: Les patients faisant partie du groupe soigné par expansion peropératoire des tissus présentaient un pourcentage plus élevé de cicatrices bien guéries (73,6 %) que ceux du groupe n'ayant pas subi cette expansion (42,1 %) (P=0,0487). Cette différence était surtout attribuable à l'élargissement des cicatrices dans le groupe n'ayant pas subi cette expansion. CONCLUSIONS: La présente étude démontre que l'expansion peropératoire des tissus chez les patients ayant une craniosténose non syndromique soignés par expansion de la calotte crânienne était plus susceptible de présenter une incision qui guérissait bien et qui cicatrisait mieux.

Normocephalic pancraniosynostosis.

Normocephalic pancraniosynostosis is a rare variant of craniosynostosis associated with delayed presentation and elevated intracranial pressure. We present 2 cases of normocephalic pancraniosynostosis highlighting the common clinical course, radiographic findings, and intraoperative findings seen in children with normocephalic pancraniosynostosis.