exotropia/obesity

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Disruptive Behavior, Global Developmental Delay, and Obesity in a 5-Year-Old Boy with a Chromosome Microduplication.

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METHODS Ryan is a 5-year-old boy who was seen in a Developmental Behavioral Pediatrics clinic for disruptive behavior and developmental delay. His medical history was notable for a tethered spinal cord repaired at age 4 months, alternating exotropia with multiple surgeries, and obesity (body mass

Cohen syndrome: further delineation and inheritance.

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Four sibs, 2 males and 2 females, were found to have the Cohen syndrome. All had moderate mental retardation, microcephaly, hypotonia, and narrow hands and feet with elongated fingers and toes; 3 were short of stature (2.0-3.5 SD below the mean) with weight between 10th and 50th centile and truncal

Mosaic variegated aneuploidy without microcephaly: implications for cytogenetic diagnosis.

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Mosaic variegated aneuploidy (MVA) is a rare condition characterized by multiple trisomies, rarely monosomies, and a non-specific phenotype including microcephaly, growth and mental retardation, mild malformations, and an increased risk of malignancy. We describe a patient with MVA in whom trisomy

[Webino syndrome caused by meningovascular syphilis. A rare entity with an unexpected cause].

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METHODS The patient is a 57-year-old obese and hypertensive male. His chief complaints were double vision and dizziness, with mild exodeviation in both eyes in primary gaze position in the ocular motility examination, but more predominant in the left eye. The exotropia was noticeably more evident on

[Beriberi after esophagectomy].

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A 55-years-old man with a history of alcoholism, hypertension and obesity was diagnosed of epidermoid carcinoma of the middle third portion of the esophagus. He was treated with two cycles of cytostatics with cisplatin and 5-fluorouracil. Due to his poor general health an inability to swallow solids

Floppy eyelid syndrome associated with keratoconus.

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Keratoconus has been associated with various ocular and systemic disorders. It has been linked, in a few cases, with floppy eyelid syndrome (a disorder characterized by a soft rubbery upper tarsus, papillary conjunctivitis and obesity). A 40-year-old male presented with a complaint of gradually

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

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Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.

Prader-Willi syndrome.
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BACKGROUND First described in 1956, Prader-Willi syndrome is a neurogenetic condition characterized by infantile hypotonia, hypogonadism and obesity. Mental deficiency, behavioral abnormalities, and obvious dysmorphic features are frequently found as well. It is a relatively common condition, with

Ophthalmologic features of Prader-Willi syndrome.
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Forty-six patients with Prader-Willi syndrome were examined to determine the incidence and character of ocular abnormalities. All patients met clinical criteria for this syndrome including infantile hypotonia, hypogonadism, truncal obesity, intellectual impairment, dysmorphic facies, and short

Idiopathic intracranial hypertension in prepubertal pediatric patients: characteristics, treatment, and outcome.
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OBJECTIVE To report the features of idiopathic intracranial hypertension in prepubertal children, with emphasis on presentation, treatment, and outcome. METHODS We retrospectively reviewed the charts of all patients 11 years and younger diagnosed with idiopathic intracranial hypertension at two

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