Congenital short trachea is a rare congenital anomaly in which the trachea is composed of reduced number of cartilage rings, which result in an abnormally high position of the carina and an abnormal course of the main bronchi. Hazards of congenital short trachea in infants and children include inadvertent bronchial intubation, because it causes bronchiostenosis, pulmonary interstitial emphysema, pneumomediastinum, pneumothorax, and ipsilateral atelectasis. Laryngeal cleft is a rare condition, as well. Symptoms range from mild stridor to massive aspiration and respiratory distress, depending on the severity of the cleft. Until now, a case with combination of these two rare congenital defects has not been reported. Herein, we report a 13 month-old boy who has congenital short trachea with laryngeal cleft.
Bronchi ; Cartilage ; Child ; Congenital Abnormalities ; Emphysema ; Humans ; Infant ; Intubation ; Larynx ; Mediastinal Emphysema ; Pneumothorax ; Pulmonary Atelectasis ; Respiratory Sounds ; Trachea

PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis, we compared the results of GH treatment in individuals with PWS due to uniparental disomy (UPD) to those of individuals with deletions. METHODS: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. RESULTS: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 +/- 0.94; deletion, 0.84 +/- 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS, and IGF-I SDS also showed no differences between the two groups. CONCLUSION: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.
Body Height ; Body Weight ; Child ; Genotype ; Growth Hormone ; Humans ; Insulin ; Insulin-Like Growth Factor I ; Phenotype ; Prader-Willi Syndrome ; Sequence Deletion ; Uniparental Disomy

PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis, we compared the results of GH treatment in individuals with PWS due to uniparental disomy (UPD) to those of individuals with deletions. METHODS: Sixty-five children with PWS who had been treated with GH for more than two years were included in this study. Twenty-one individuals were confirmed as having UPD and 44 individuals had a deletion. Height, body weight, body mass index (BMI), and insulin like growth factor-1 (IGF-I) measurements were recorded before GH treatment and at intervals of 12 months thereafter. RESULTS: After two years of GH therapy, no significant differences were noted for yearly improvements in height standard deviation scores (SDS) between the groups (second year SDS, 0.93 +/- 0.94; deletion, 0.84 +/- 1.31; UPD, P = 0.717). Body weight SDS, BMI SDS, and IGF-I SDS also showed no differences between the two groups. CONCLUSION: Our study showed no significant differences in yearly improvements in height SDS between the deletion and UPD groups, at least for the first two years.
Body Height ; Body Weight ; Child ; Genotype ; Growth Hormone ; Humans ; Insulin ; Insulin-Like Growth Factor I ; Phenotype ; Prader-Willi Syndrome ; Sequence Deletion ; Uniparental Disomy