Smith‐Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi‐disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20–78, most patients falling in the moderate range of mental retardation at 40–54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter. © 1996 Wiley‐Liss, Inc.

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic, developmental, ophthalmologic, otolaryngologic, and audiologic evaluations were performed on 27 SMS patients. Significant findings include otolaryngologic abnormalities in 94%, eye abnormalities in 85%, sleep abnormalities (especially reduced REM sleep) in 75%, hearing impairment in 68% (approximately 65% conductive and 35% sensorineural), scoliosis in 65%, brain abnormalities (predominantly ventriculomegaly) in 52%, cardiac abnormalities in at least 37%, renal anomalies (especially duplication of the collecting system) in 35%, low thyroxine levels in 29%, low immunoglobulin levels in 23%, and forearm abnormalities in 16%. The measured IQ ranged between 20-78, most patients falling in the moderate range of mental retardation at 40-54, although several patients scored in the mild or borderline range. The frequency of these many abnormalities in SMS suggests that patients should be evaluated thoroughly for associated complications both at the time of diagnosis and at least annually thereafter.

Intracranial complications of sinusitis (ICS) (cerebral, epidural, and subdural abscesses, meningitis, and dural sinus thrombophlebitis) remain a challenging and contemporary topic. The progressive pneumatization and continued development of the sinuses after birth and the late appearance of the frontal and sphenoid sinuses imply that some infections would not appear until later childhood. We reviewed the records at a large pediatric hospital between 1986 and 1995 and found 10 children with 13 ICS (cerebral abscess, 5; extra-axial empyema, 5; and meningitis, 3). Of 43 children with cerebral abscess and 16 with extra-axial abscesses treated in this period, 12% of cerebral and 63% of extra axial abscesses were due to a sinogenic source. Multiple intracranial and extracranial complications of sinusitis in a single patient were common. The average age of children with ICS was 12.2 years old. We present these 10 cases and discuss their presentation, microbiology, and clinical course. Although the majority presented with a classic picture of headache, altered mental status, and fever, a few had symptoms that were more subtle. One child had recurrent meningitis, believed to be due to skull base dehiscence after endoscopic sinus surgery (ESS). He has required multiple otolaryngologic and neurosurgical procedures in an effort to prevent further episodes of meningitis. Ultimately, nine of 10 patients survived with an average hospital stay of 27.8 days (median of 17 days). The diagnosis of ICS requires a high index of suspicion, imaging of the brain and paranasal sinuses, and aggressive intervention.

The Tonsil and Adenoid Health Status Instrument is a valid, reliable, and sensitive instrument with 6 distinct subscales. This instrument has significant utility for outcomes research in children with tonsil and adenoid disease.