title: Ophthalmological Findings in 6p Deletion Syndrome.
abstract: Patients with a deletion at the terminal end of chromosome 6p can present with a variety of ophthalmological and systemic malformations. In this paper we present two patients with this chromosomal anomaly and similar anterior eye-segment abnormalities. We also give an overview of the literature on the ophthalmological findings in 6p deletion syndrome and compare our patients to those previously described in the literature. This syndrome should be considered in patients presenting with anterior segment dysgenesis and systemic abnormalities.
authors: Departments of Ophthalmology .
authors: Tine
authors: T
authors: Cornelis
authors: Maissa
authors: M
authors: Rayyan
authors: Koenraad
authors: K
authors: Devriendt
authors: Ingele
authors: I
authors: Casteels
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D001724:Birth Weight; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003318:Corneal Opacity / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D006836:Hydro-Lyases / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D017384:Sequence Deletion
chemical_list: C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; D006836:Hydro-Lyases; C044971:GDPmannose 4,6-dehydratase
keywords: 6p deletion; Axenfeld-rieger spectrum; pediatric ophthalmology