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Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present. The purpose of this study was to more fully describe tetrasomy 18p at both the genotypic and the phenotypic levels. Array CGH was performed on 43 samples from individuals with tetrasomy 18p diagnosed via routine karyotype. The medical records of 42 of these 43 individuals were reviewed. In order to gain additional phenotypic data, 31 individuals with tetrasomy 18p underwent a series of clinical evaluations at the Chromosome 18 Clinical Research Center. Results from the molecular analysis indicated that 42 of 43 samples analyzed had 4 copies of the entire p arm of chromosome 18; one individual was also trisomic for a section of proximal 18q. The results of the medical records review and clinical evaluations expand the phenotypic description of tetrasomy 18p to include neonatal jaundice and respiratory distress; recurrent otitis media; hearing loss; seizures; refractive errors; constipation and gastroesophageal reflux; cryptorchidism; heart defects; and foot anomalies. Additional findings identified in a small number of individuals include hernias, myelomeningocele, kidney defects, short stature, and failure to respond to growth hormone stimulation testing. Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested.

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SummarySarcoidosis is an autoimmune granulomatous disease that can affect any organ system in the body. Ocular and orbital manifestations are relatively common. Osseous involvement is rare and usually involves bones of the appendicular skeleton. We present an unusual case of an erosive sarcoid granuloma in a 48-year-old woman that involved the orbital apex. This case highlights diagnosis, treatment, and the importance of full systemic workup to determine the extent of the disease. Case ReportA 48-year-old, African American woman with a past medical history significant for nonischemic cardiomyopathy presented to the cardiology clinic at the University of Kansas Hospital for follow-up examination. She complained of a 1-week history of parieto-occipital headache and progressive vision loss in the right eye. She denied eye pain, flashes/floaters, diplopia, or changes in vision in her left eye. Neurology was consulted, and the patient was transferred to the emergency department for a stroke workup. Computed tomography (CT) of the head without contrast showed no abnormalities.On ophthalmological examination, her best-corrected visual acuity was 20/30 in the right eye and 20/20 in the left eye, with no afferent pupillary defect (APD). There was a mild temporal restriction on confrontation visual field testing in the right eye; the visual field was full in the left eye. The dilated posterior segment appeared unremarkable in each eye. The patient was discharged with a diagnosis of an atypical migraine and was instructed to follow-up at the outpatient ophthalmology clinic the following week.Two days later, the patient presented to the emergency department with worsening of her symptoms. On examination, visual acuity in the right eye was hand motions; in the left eye, 20/20. There was a new APD in the right eye. Intraocular pressure (IOP) by Tono-Pen (Reichert Technologies, Depew, NY) was 14 mm Hg in the right eye and 13 mm Hg in the left eye. Visual field by confrontation was restricted in all quadrants except superotemporally in the right eye and full in the left eye. Dilated fundus examination again revealed an unremarkableappearing optic nerve head, macula, vessels and periphery in each eye.With no abnormalities seen on the dilated fundus examination, workup for a posterior optic neuropathy was initiated. A CT of the brain without contrast was repeated, and no abnormalities were noted. A CT of the orbits without contrast showed an abnormal soft tissue lesion with an aggressive erosive process involving the posterior right orbit and ethmoid sinus (Figure 1). CT of the chest without contrast showed mediastinal and bilateral hilar lymphadenopathy as well as multiple bilateral lung nodules concerning for sarcoidosis or lymphoma ( Figure 2). Positron emission tomography scan showed increased fluorodeoxyglucose uptake within the region of the right ethmoid sinus and metabolically active supraclavicular, mediastinal, hilar, periportal, and inguinal lymphadenopathy with diffuse increased uptake of the spleen. Lumbar puncture ...

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