Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.

Syngnathia is a rare congenital disorder of jaw fusion with a paucity of literature from developed countries. We present a case of an infant noted to have multiple anomalies at birth including syngnathia, microcephaly with a variant of brain abnormality between holoprosencephaly and syntelencephaly, optic nerve hypoplasia, ear canal anomalies, hemi-vertebrae, and suspected hypomelanosis of Ito. To our knowledge, this patient with syngnathia and multiple anomalies is the first to be reported, but whether they are a coincidence, a pathogenetic association, or a new syndrome remains unknown. This case is discussed with a brief review of the literature.

Hemodynamic management of congenital diaphragmatic hernia: the role of targeted neonatal echocardiography.

Congenital diaphragmatic hernia (CDH) is a major congenital anomaly, resulting from the herniation of abdominal contents into the thoracic cavity, thereby impeding the proper development of the lungs and pulmonary vasculature. CDH severity correlates with a spectrum of pulmonary hypoplasia, pulmonary hypertension (PHT), and cardiac dysfunction, constituting the pathophysiological triad of this complex condition. The accurate diagnosis and effective management of PHT and cardiac dysfunction is pivotal to optimizing patient outcomes. Targeted neonatal echocardiography is instrumental in delivering real-time data crucial for the bespoke, pathophysiology-targeted hemodynamic management of CDH-associated PHT.

Pulmonary vein stenosis of ex-premature infants with pulmonary hypertension and bronchopulmonary dysplasia, epidemiology, and survival from a multicenter cohort.

BACKGROUND: Pulmonary vein stenosis is emerging as an important clinical problem in ex-premature infants. METHODS: We sought to describe the epidemiology of pulmonary vein stenosis affecting ex-premature infants by a multicenter retrospective cohort study of patients from seven children's hospitals diagnosed between 2000-2014. RESULTS: We identified 39 ex-premature patients (26 males, median gestational age 28 weeks range 22-36 weeks, birth weight 1.1 kg range 433-2645-g) with pulmonary vein stenosis. Median age at diagnosis was 6.5 months (1 month-6 years). Presentation with pulmonary hypertension occurred in 26/39 (67%) and 29/39 (74%) had bronchopulmonary dysplasia, 15 (39%) were born of twin pregnancies with unaffected twin siblings. A median of 5 (range 1-25) echocardiograms was performed prior to diagnosis. The diagnosis was made using echocardiography in 22/39 (56%), by multi-detector contrast computed tomography scan (CT) in 8/39 (21%), cardiac catheterization in 6/39 (15%) patients, magnetic resonance imaging in 3/39 (8%). Freedom from death or re-stenosis was 73% at 1-year, 55% at 2, 5, and 10 years. Factors associated with shorter survival or re-stenosis were stenosis of ≥3 pulmonary veins (P < 0.01), bilateral pulmonary vein stenosis (P < 0.01) small for gestational age (P = 0.05), aged <6 months at diagnosis (P < 0.01). CONCLUSION: Pulmonary vein stenosis of ex-premature infants is a complex problem with poor survival, delayed diagnosis, and unsatisfactory treatment. The lack of concordance in twins suggests epigenetic or environmental factors may play a role in the development of pulmonary vein stenosis. In ex-premature infants with pulmonary hypertension and bronchopulmonary dysplasia a focused echocardiographic assessment of the pulmonary veins is required with further imaging if the echocardiogram is inconclusive.

Stomach infarction in an ex-premature infant.

Gastric pneumatosis and thickened gastric wall are rare radiological findings that may be indicative of severe gastrointestinal tract ischaemia or necrosis; we report a case with a brief discussion of the literature. The premature neonate conveyed an interesting series of rare X-ray findings which were secondary to extensive gastric, duodenal and proximal jejunal infarction. She was managed palliatively and died.

Miller-dieker syndrome associated with congenital lobar emphysema.

Miller-Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient.

Policy change for infants born at the "cusp of viability": a Canadian NICU experience.

Resuscitation and life-support treatments for infants born at the "cusp of viability" continue to be subject to clinical and ethical debate. Reported positive outcomes for these infants led our Neonatal Program to critically review our historic practice of discouraging resuscitation of infants born at <24 weeks' gestational age. This practice change required a multifaceted, collaborative approach including neonatal, perinatal, and obstetric efforts. An exceptional experience was the formation of a dedicated working group that included invaluable input from parents who had lived the NICU experience. The inclusion of family members in the development of clinical policy was a novel experience for NICU staff, which we feel ultimately resulted in a more ethically sound approach to the care of these infants and their families. In this article, we explore our experience of the process of policy change, which although detailed and transparent was also complex and challenging in development and implementation.