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Beckwith-Wiedemann syndrome (BWS) is the most common epigenetic overgrowth and cancer predisposition disorder. Due to both varying molecular defects involving chromosome 11p15 and tissue mosaicism, patients can present with a variety of clinical features, leading to the newly defined Beckwith-Wiedemann spectrum (BWSp). The BWSp can be further divided into three subsets of patients: those presenting with classic features, those presenting with isolated lateralized overgrowth (ILO) and those not fitting into the previous two categories, termed atypical BWSp. Previous reports of patients with BWS have focused on those with the more recognizable, classic features, and limited information is available on those who fit into the atypical and ILO categories. Here, we present the first cohort of patients recruited across the entire BWSp, describe clinical features and molecular diagnostic characteristics, and provide insight into practical diagnosis and management recommendations that we have gained from this cohort.

Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. Affected patients exhibit wide phenotypic variability. Common features include coronal craniosynostosis, hearing loss, carpal and tarsal anomalies, and developmental/behavioral issues. Our study examined the phenotypic findings, medical management, and surgical outcomes in a cohort of 26 probands with Muenke syndrome identified at the Children’s Hospital of Philadelphia. All probands had craniosynostosis; 69.7% had bicoronal synostosis only, or bicoronal and additional suture synostosis. Three male patients had autism spectrum disorder. Recurrent ear infections were the most common comorbidity, and myringotomy tube placement the most common extracranial surgical procedure. Most patients (76%) required only one fronto-orbital advancement. de novo mutations were confirmed in 33% of the families in which proband and both parents were genetically tested, while in the remaining 66% one of the parents was a mutation carrier. In affected parents, 40% had craniosynostosis, including 71% of mothers and 13% of fathers. We additionally analyzed the medical resource utilization of probands with Muenke syndrome. To our knowledge, these data represent the first comprehensive examination of long-term management in a large cohort of patients with Muenke syndrome. Our study adds valuable information regarding neuropsychiatric and medical comorbidities, and highlights findings in affected relatives.

Background Severe blood loss is a common complication of craniofacial reconstruction surgery. The antifibrinolytic e-aminocaproic acid (EACA) reduces transfusion requirements in children undergoing cardiac surgery and in older children undergoing spine surgery. Tranexamic acid (TXA), another antifibrinolytic with a similar mechanism of action, has been shown to reduce blood loss and transfusion requirements in children undergoing craniofacial surgery. However, TXA has been associated with an increase in post-operative seizures and is more expensive than EACA. There is currently little published data evaluating the efficacy of EACA in children undergoing craniofacial surgery. Methods This is a retrospective study of prospectively collected data from our craniofacial perioperative registries for children under 6 years of age who underwent anterior or posterior cranial vault reconstruction. We compared calculated blood loss, blood donor exposures, and post-operative drain output between subjects who received EACA and those who did not. Results The registry queries returned data from 152 subjects. Eighty-six did not receive EACA and 66 received EACA. The EACA group had significantly lower calculated blood loss (82 ± 43 vs. 106 ± 63 ml/kg, P = 0.01), fewer intraoperative blood donor exposures (median 2, interquartile range 1-2 vs. median 2, interquartile range 1-3; P = 0.02) and lower surgical drain output in the first post-operative 24 h (28 ml/kg vs. 37 ml/kg, P = 0.001) than the non-EACA group. Conclusion In this analysis of prospectively captured observational data, EACA administration was associated with less calculated blood loss, intraoperative blood donor exposures, and post-operative surgical drain output.

In this systematic review, the authors summarize the current evidence in the literature regarding diagnosis, treatment, and long-term outcomes in neonates with tongue-based airway obstruction (TBAO) and assess the level of evidence of included studies.The terms Pierre Robin syndrome/sequence, micrognathia, retrognathia, and cleft palate were combined with airway obstruction, treatment, tongue-lip plication, and osteogenesis distraction to perform an Ovid literature search, yielding 341 references. The authors excluded references containing patients with isolated choanal/nasal obstruction, patients older than 12 months, and expert opinion papers, yielding 126 articles.The authors searched 3 electronic databases and reference lists of existing reviews from 1980 to October 2010 for articles pertaining to the diagnosis, treatment, and outcomes of TBAO. Reviewers assigned a level of evidence score based on Oxford's Centre for Evidence Based Medicine scoring system and recorded relevant information.Most studies were case studies and single-center findings. The lack of standardization of diagnostic and treatment protocols and the heterogeneity of cohorts both within and between studies precluded a meta-analysis. There was little evidence beyond expert opinion and single-center evaluation regarding diagnosis, treatment, and long-term outcomes of neonates with TBAO.The variability in the phenotype of the cohorts studied and the absence of standardized indications for intervention preclude deriving any definitive conclusions regarding diagnostic tools to evaluate this patient population, treatment choices, or long-term outcomes. A coordinated multicenter study with a standardized diagnostic and treatment algorithm is recommended to develop evidence for the diagnosis and treatment of neonates with TBAO.

We present a pilot report of ‘’ the contralateral hemi-abdominal deep inferior epigastric perforator (DIEP) flap under the abdominal closure in patients undergoing unilateral autologous breast reconstruction when a hemi-abdominal flap suffices. Four patients undergoing unilateral autologous breast reconstruction with a hemi-abdominal DIEP or superficial inferior epigastric artery flap had their contralateral hemi-abdominal flap left in position, or ‘’ under their abdominal closure to be used in case of failure. This novel method may be of assistance when a free microvascular hemi-abdominal flap is felt to be threatened or suspect. It provides a life-boat for the younger and experienced surgeon alike, and most importantly, for the breast cancer survivor. Economic analysis of the technique reveals that the contralateral hemi-abdominal flap should be banked more often than intuition alone would suggest. V C 2009 Wiley-Liss, Inc. Microsurgery 29:265–269, 2009. The deep inferior epigastric artery perforator (DIEP) flap and the superficial inferior epigastric artery (SIEA) flap have become outstanding options in breast reconstruction after mastectomy for breast cancer or prophylaxis. The popularity has arisen because they eliminate much of the significant morbidity to the abdominal wall and rectus musculature associated with the traditional transverse rectus abdominis myocutaneous (TRAM) flap. 1–3 However, these perforator flaps are complex and challenging due to the high variability and unpredictability in perforator anatomy and microsurgical skill required for success. Furthermore, perforator-based flaps do not have the same blood supply that the pedicled and free TRAM flaps have. 4 Free TRAM flaps and DIEP flaps share similar source arterial blood supply and venous drainage; however, normal and abnormal anatomic variation can exist. 5 Some studies show higher rates of partial flap necrosis and fat necrosis in DIEP flaps than those in free TRAM flaps. 4,6

We present the concept that a surgical robot may be used to successfully perform a free flap. To study different microsurgical techniques, a porcine free flap model was developed in our laboratory. Dissection of the free flap model and isolation of the vessels were completed under traditional loupe magnification. The da Vinci robot was then used to perform vessel adventitiectomy and microanastomoses. The model was observed for 4 h postoperatively, noting flap color, temperature, capillary refill, and Doppler signal. At the end of this period, the flap was noted to be viable; anastomoses were evaluated and found to be grossly and microscopically patent. Advantages conferred by the da Vinci robot include elimination of tremor, scalable movements, fully articulating instruments with six degrees of spatial freedom, and a dynamic three-dimensional visualization system. Drawbacks include the cost and the absence of true microsurgical instruments.

We report a case of a solitary infantile myofibroma masquerading as an ulcerated infantile hemangioma. Infantile myofibroma is a rare soft tissue tumor that has a good prognosis in the solitary form. It may be difficult to distinguish clinically from more common tumors of infancy such as an infantile hemangioma or from other rare entities and therefore requires a biopsy for definitive diagnosis.