De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay.

Cytogenomic microarray (CMA) methodologies, including array comparative genomic hybridization (aCGH) and single-nucleotide polymorphism-detecting arrays (SNP-array), are recommended as the first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. The authors report on a child with global developmental delay (GDD) and a de novo interstitial 7.0 Mb deletion of 9q21.33q22.31 detected by aCGH. The patient that the authors report here is noteworthy in that she presented with GDD and her interstitial deletion is not inclusive of the 9q22.32 locus that includes the PTCH1 gene, which is implicated in Gorlin syndrome, or basal cell nevus syndrome (BCNS), has not been previously reported among patients with a similar or smaller size of the deletion in this locus suggesting that the genomic contents in the identified deletion on 9q21.33q22.31 is critical for the phenotype.

Horner syndrome after tonsillectomy: an anatomic perspective.

BACKGROUND: Horner syndrome after tonsillectomy has been reported rarely in the literature. Furthermore, postoperative Horner syndrome lasting more than a 1 month is an even more rare occurrence. PATIENT: We present a persistent postoperative Horner syndrome in a 5-year-old child following tonsillectomy. RESULTS: Clinical diagnosis of Horner syndrome is confirmed pharmacologically, and damage to the oculosympathetic pathway at the level of the superior cervical ganglion is radiographically demonstrated. CONCLUSION: Conventional monopolar electrosurgical dissection led to irreversible damage of ganglionic neural tissue at the level of the palatine tonsilar fossa and permanent Horner syndrome.