A 1-Day-Old Girl With Infantile Hemangioma and Sternal Cleft.

CASE PRESENTATION: A newborn girl presented to the hospital on the first day of life because of respiratory failure. She was born at home at 37 weeks' gestation with minimal prenatal care and was found to be small for gestational age. The patient was found to have partial sternal agenesis and sternal cleft, cutis aplasia, left facial hemangioma, micrognathia, wide-spaced nipples, and low-set ears. The mother's and baby's urine toxicology screening were positive for amphetamines. Chest radiographs on admission showed bilateral hazy opacities. CT scan of the chest showed an absent sternum with midline chest wall concavity. The patient was monitored preoperatively in the cardiac ICU for risks of arrythmia, respiratory failure, altered cardiac output, and acute cardiopulmonary decompensation.

Pharyngeal Flap Versus Sphincter Pharyngoplasty for the Treatment of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome: Preliminary Findings From a Systematic Review.

The purpose of this study was to examine and compare surgical and speech outcomes of the posterior pharyngeal flap and sphincter pharyngoplasty following surgical management of velopharyngeal insufficiency in patients with 22q11.2 deletion syndrome (22q11.2DS). This systematic review followed the Preferred Reporting Items for Systematic Review and Meta-Analyses checklist and guidelines. Selected studies were chosen using a 3-step screening process. The 2 primary outcomes of interest were speech improvement and surgical complications. Preliminary findings based on included studies suggest a slightly higher rate of postoperative complications with the posterior pharyngeal flap in patients with 22q11.2DS but a lower percentage of patients needing additional surgery compared with the sphincter pharyngoplasty group. The most reported postoperative complication was obstructive sleep apnea. Results from this study provide some insight into speech and surgical outcomes following pharyngeal flap and sphincter pharyngoplasty in patients with 22q11.2DS. However, these results should be interpreted with caution due to inconsistencies in speech methodology and lack of detail regarding surgical technique in the current literature. There is a significant need for standardization of speech assessments and outcomes to help optimize surgical management of velopharyngeal insufficiency in individuals with 22q11.2DS.

Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.

Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.

Keystone Flap Reconstruction after Resection of a Large Paraspinal Venous Malformation in an Infant.

The keystone flap is well known to plastic surgeons and is frequently utilized for its ease of implementation, limited donor site morbidity, and favorable aesthetic outcomes. Although keystone flaps have been described in reconstruction of myelomeningocele defects, there have been no reports of their application to infants with large vascular malformations. This case illustrates the utilization of a keystone flap in reconstruction of a large posterior trunk defect that resulted from excision of a massive venous malformation in an 8-week-old infant with blue rubber bleb nevus syndrome. The patient's consumptive coagulopathy resolved in the early postoperative period, and long-term follow-up demonstrated a favorable aesthetic outcome. This case reiterates the power and versatility of the keystone flap technique through its novel application to an infant with a life-threatening venous malformation on the posterior trunk.

Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.

OBJECTIVE: To evaluate disease-specific guideline adherence among children with 22q11.2 deletion syndrome receiving multidisciplinary team care through a 22q specialty clinic compared to children not receiving team care. DESIGN: Retrospective chart review; quality improvement project. SETTING: Tertiary care pediatric hospital. PATIENTS: One hundred eighty-nine patients with 22q11.2 deletion syndrome were categorized into those receiving team care and those not receiving team care. Guideline adherence was compared between the 2 groups. MAIN OUTCOME MEASURE(S): Percent adherence across 8 disease-specific guidelines. RESULTS: A Welch t test revealed mean adherence among patients receiving team care was significantly higher (83% vs 42%, P < .001) compared those not receiving team care. Among team patients with a single 22q Center visit, a paired samples t test showed that mean adherence increased from 63% before the clinic encounter to 86% six months after the encounter (P < .001). Some guidelines were more likely to be associated with provider nonadherence, whereas others were more likely to be associated with patient nonadherence. CONCLUSIONS: Multidisciplinary team care is associated with significantly higher guideline adherence in children with 22q11DS. Additional research is needed to investigate the effect of team care on long-term health outcomes in children with 22q11DS.

Implant-associated anaplastic large cell lymphoma: beyond breast prostheses.

OBJECTIVE: Anaplastic large cell lymphoma (ALCL) is a rare form of non-Hodgkin T-cell lymphoma potentially associated with silicone-shelled breast implants. The low incidence of ALCL has prevented establishment of causality. Many implantable devices are constructed with biomaterials similar to those used in breast prostheses. The purpose of this paper is to identify reports of ALCL in association with other types of implantable devices. METHODS: A literature review was conducted using PubMed to identify reports of non-Hodgkin lymphoma in association with various implantable devices. RESULTS: One case of ALCL was identified in association with a stainless steel internal fixation plate. Diffuse large B-cell lymphoma was widely reported in association with various implantable biomaterials and chronic inflammation. CONCLUSION: The neoplastic response associated with breast prostheses appears substantively different from other implantable devices. Physicians caring for patients with silicone elastomer-containing implants should have increased suspicion for implant-associated ALCL and report all pertinent cases in the literature.