PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Background: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of genome analyses in both clinic and research.

[Juvenile idiopathic arthritis and oral health].

Juvenile idiopathic arthritis (JIA) is the most common autoimmune inflammatory disease of connective tissue in children. It is characterized by progressive joint destruction which causes preserved changes in the musculoskeletal system. The literature describes fully clinical symptoms and radiological images in different subtypes of JIA.

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.

We report on a de novo interstitial deletion of 20q11.21-q11.23 in a 2-year-old girl with a set of dysmorphic features, cleft palate, heart defect, severe feeding problems, failure to thrive, developmental delay, preaxial polydactyly (right thumb), and retinal dysplasia.

[Systemic and ophthalmological findings in Cornelia de Lange syndrome].

Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder, characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing, cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.

[Treatment of nasolacrimal duct obstruction with probing in children younger than 4 years].

Purpose: To evaluate the efficacy of nasolacrimal duct probing as the treatment of nasolacrimal duct obstruction in children younger than 4 years.

Material And Methods: A total amount of 320 eyes in 275 children 4 to 48 months old, receiving nasolacrimal duct probing were enrolled in a retrospective study. The patients were divided into 4 groups depends on age: I group--4-12 months, II group--12-24 months, III group--24-36 months and IV group--36-48 months.

[Ophthalmologic findings in child in the Cornelia de Lange syndrome].

Purpose: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, development delay, low birth weight, skeletal anomaly, hirsutism and various ophthalmologic and hearing findings.

Material And Methods: We described ophthalmologic problems in 2-year-old girl.

Results: We have find arched eyebrows, long lashes, epiphora, ptosis, nystagmus, myopia, and fundus eye changes.

[Nasolacrimal duct disorders in children. Part II. Treatment].

Congenital nasolacrimal duct obstruction (CLDO) is considered as common and onerous disorder present at infancy. Over 5% of infants have CLDO affecting one or both eyes. The symptoms of CLDO appear shortly after birth or during the first weeks of life.

[Nasolacrimal duct disorders in children. Part I. Anatomy, physiology and clinical signs].

Congenital nasolacrimal duct obstruction (CLDO) is considered as common and onerous disorder present at infancy. Over 5% of infants have CLDO affecting one or both eyes. The symptoms of CLDO appear shortly after birth or during the first weeks of life.