A newborn with Cornelia de Lange syndrome: a case report

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs

Absence of the epiglottis in an infant with pierre robin sequence

Epiglottis anomaly associated with Pierre Robin sequence (PRS) is a rare occurrence. Most infants with PRS have presented life-threatening symptoms of respiratory distress and severe feeding problems that usually end with death. To the knowledge of the authors, this is the first reported case of epiglottis agenesis associated with PRS. The clinician must be aware of this unusual presentation in a PRS, and the presented case reveals the challenges in the treatment of the respiratory and feeding problems. This case is discussed with a review of the literature. © 2010 Elsevier Ireland Ltd. All rights reserved

Do gastrointestinal and respiratory signs and symptoms correlate with the severity of gastroesophageal reflux?

PubMed ID: 22436080Background: Gastroesophageal reflux (GER) is a disorder that is common by seen in childhood and may lead to severe complications. In this study, we ascertained the incidence of GER among the children who had typical and atypical complaints of GER and whether there was a difference between two groups comparing the findings of 24-hour pH-meter.Methods: 39 out of 70 patients with typical and atypical GER symptoms were diagnosed as GER by 24-hour pH-meter monitoring. The patients were divided into three groups, those having gastrointestinal complaints, those having respiratory complaints and those having both gastrointestinal and respiratory symptoms.Results: Evaluated the GER prevalence in these groups, it was found to be 60% in the gastrointestinal group, 48.6% in the respiratory group and 75% in the mixed group. When pH-meter measurements of GER positive patients were compared within the clinical groups, the fraction of time that pH was lower than 4 was found to be significantly higher in the mixed group (p = 0.004).Conclusions: The coexistence of gastrointestinal and respiratory symptoms in the patients with GER may be related to the severe reflux. © 2012 Uzun et al; licensee BioMed Central Ltd