• Clinical and Experimental Pediatrics
• /
• v.55 no.6
• /
• pp.212-214
• /
• 2012

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defects (a large patent ductus arteriosus and arch hypoplasia) and obstructive sleep apnea during early infancy. The congenital heart defects were surgically corrected, but persistent pulmonary hypertension was identified 2 months after the operation. This pulmonary hypertension was due to OSA, and it was relieved by nasal continuous positive airway pressure. This case is the first report of pulmonary hypertension from OSA in a young infant with RTS.

• The korean journal of orthodontics
• /
• v.52 no.4
• /
• pp.308-312
• /
• 2022

Since the emergence of neonatal infant orthodontics for treatments of cleft lip and palate with or without Robin sequence (RS) in Europe in the 1950s, advancements in design and scope of its application have been remarkable. As the first institution to adopt orthodontic airway plate (OAP) treatment in the United States in 2019, we saw a need for innovation of the original design to streamline the most labor-intensive and time-consuming aspects of OAP utilization. A solution is introduced using a systematic split expansion mechanism to re-size the OAP periodically to accommodate the neonate's maxillary growth. To date, seven RS patients have received this modified treatment protocol at our institution. Each patient completed full treatment using only one OAP. This innovative utilization method is aptly named the split orthodontic airway plate (S-OAP). Details of the S-OAP and its modifications from conventional OAP are reported.

• Korean Journal of Bronchoesophagology
• /
• v.3 no.1
• /
• pp.128-136
• /
• 1997

Laryngomalacia is the most common cause of stridor in infant. It is a relatively benign self-limiting condition, but in severe cases, it results in obstructive sleep apnea, cor pulmonale , gastroesophageal reflux, failre to thrive, pectus excavatum, respiratory failure and death. When the airway obstruction related to laryngomalacia becomes significant, surgical correction of the underlying laryngeal deformity is indicated. Numerous reports provide evidence to support the trimming supraglottic soft tissue by using either conventional instruments or the surgical laser for treatment of severe laryngomalacia. Recently, authors experienced a case of laryngomalacia with Trisomy 13 (Patau syndrome) which had three times respiratory arrest and was treated with laser aryepiglottoplasty. We report this case with review of the literatures.

• Clinical and Experimental Pediatrics
• /
• v.45 no.3
• /
• pp.383-389
• /
• 2002

We experienced a case of partial DiGeorge syndrome in a $35^{＋5}$ week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorousformula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions & numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray & chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.