Failure of Mandibular Distraction Osteogenesis in Klippel- Feil Syndrome- 4: A Case Report of a Rare Syndromic Robin Sequence.

Klippel-Feil syndrome-4 (KFS4), a rare autosomal recessive form of Klippel- Feil syndrome, is characterized by facial dysmorphism, nemaline myopathy, and short stature. Only 10 cases of KFS4 have been previously published in the literature. We report a novel case of a 1- month-old girl with known KFS4 and Robin Sequence (RS). At 2 months old, she underwent bilateral mandibular distraction osteogenesis to correct significant airway obstruction. Despite adequate mandibular advancement, the patient failed extubation twice and eventually required a tracheostomy. Due to the multiple anomalies present in KFS4, mandibular distraction osteogenesis may have a decreased likelihood of surgical success.

Neonatal Mandibular Distraction Without a Consolidation Period: Is It Safe? Is it Effective?

PURPOSE: Consolidation is a standard part of most post-distraction protocols. This study aims to determine whether the deliberate omission of a consolidation period following mandibular distraction (MD) in neonates with Pierre Robin sequence (PRS) affected the airway outcomes and complication rates. PATIENTS AND METHODS: A retrospective chart review of 28 neonates with PRS who underwent MD for severe airway obstruction between 2009 and 2014 was performed. Neonates were split into 2 cohorts: those with a very short or no consolidation (no consolidation group, n = 18) and those with a traditional consolidation period (consolidation group, n = 10). RESULTS: Mean consolidation length was 25 days in the conventional consolidation group and 1.5 days in the no consolidation group (P < 0.01). Postoperatively, both groups showed equivalent improvements in their obstructive index as measured by polysomnography. Compared with the patients who underwent convention consolidation, patients in the "no consolidation" group did not require a greater number of repeat distraction, supplemental oxygen, or tracheostomy. Nor was there any significant difference in the number of complications between the 2 groups. CONCLUSION: In neonates with PRS treated with MD for severe airway obstruction, the omission of a consolidation period does not appear to significantly affect the complication rate or resolution of airway obstruction.

Genetic Advances in the Understanding of Microtia.

Microtia is a genetic condition affecting the external ears and presents clinically along a wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely affected ears lack all identifiable structures, with the most extreme being absence of the entire external ear. Multiple genetic causes have been linked to microtia in both animal models and humans, which are improving our understanding of the condition and may lead to the identification of a unified cause for the condition. Microtia is also a prominent feature of several genetic syndromes, the study of which has provided further insight into the possible causes and genetic mechanisms of the condition. This article reviews our current understanding of microtia including epidemiological characteristics, classification systems, environmental and genetic causative factors leading to microtia. Despite our increased understanding of the genetics of microtia, we do not have a means of preventing the condition and still rely on complex staged, surgical correction.

Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series.

Hypophosphatasia (HPP) is a rare inherited disorder of bone metabolism that results in the loss of function of the gene coding for tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease. Traditionally, HPP has had a poor prognosis, with few children surviving to exhibit the phenotype of clinical craniosynostosis that requires surgical intervention. Here, the authors report on new advancements in enzyme replacement therapy (ERT) for children affected by HPP, allowing these patients to survive and undergo surgery to address complex craniosynostosis. The authors discuss their case series of 4 HPP patients treated at their institution with ERT who have undergone successful surgical intervention for craniosynostosis. These children had no complications related to their surgeries and exhibited decreased neurological symptoms following cranial vault remodeling. This study reveals that ERT administered either pre- or post- operatively paired with cranial vault remodeling strategies can yield improved neurological outcomes in children affected by HPP.