laryngomalacia/癲癇性発作

BACKGROUND Partial Trisomy 11q syndrome (or Duplication 11q) has defined clinical features and is documented as a rare syndrome by National Organization of Rare Disorders (NORD). Deletion 1q44 (or Monosomy 1q44) is a well-defined syndrome, but there is controversy about the genes lying in 1q44

OBJECTIVE To correlate clinical and histological findings in patients with laryngomalacia who required surgical intervention. METHODS Retrospective study of all patients undergoing supraglottoplasty by a single surgeon (MEG) for severe laryngomalacia between October, 1999 and November,

The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians for ages. Our patient was born at term via caesarean-section with a birth weight of 1.95 kilograms. She had mild laryngomalacia, gastroesophageal reflux disease and seizures. Physical signs included

Implantation of a vagus nerve stimulator (VNS) can be an effective treatment for medically refractory seizures. Laryngeal side effects from a VNS can include hoarseness, cough, and shortness of breath. This report highlights a 5-year-old female who presented with stridor in the setting of acquired

Left ventricular non-compaction (LVNC) is reported to affect 0.14 % of the pediatric population. The etiology is heterogeneous and includes a wide number of genetic causes. As an illustration, we report two patients with LVNC who were diagnosed with a genetic syndrome. We then review the literature

OBJECTIVE To determine the prevalence of silent aspiration in pediatric patients and identify which diagnoses may be associated with this finding. METHODS An institutional review board-approved retrospective review was conducted for all patients under the age of 18 who underwent modified barium

BACKGROUND Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of

Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and

Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Arterial septal defect and

To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure