title: Trichomegaly, pigmentary degeneration of the retina and growth disturbances. A probable autosomal recessive disorder.
abstract: Two brothers are described with trichomegaly, early pigmentary degeneration of the retina, growth retardation, anterior pituitary deficiencies and peripheral neuropathy. This syndrome, initially reported in a boy by Olivers and Mac Farlane in 1965 (6), and thereafter in six sporadic cases of both sexes, is not associated with a recognizable chromosomal defect. The present report of two brothers of healthy parents with negative familial history suggests an autosomal recessive mode of inheritance of this entity.
authors.affiliation: Centre de Conseil Génétique, Service de Pediatrie I, Amiens, France.
authors.forename: M
authors.initials: M
authors.lastname: Mathieu
authors.forename: A
authors.initials: A
authors.lastname: Goldfarb
authors.forename: P
authors.initials: P
authors.lastname: Berquin
authors.forename: B
authors.initials: B
authors.lastname: Boudailliez
authors.forename: B
authors.initials: B
authors.lastname: Labeille
authors.forename: C
authors.initials: C
authors.lastname: Piussan
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012162:Retinal Degeneration / Q000235:genetics*
chemical_list: D013006:Growth Hormone