title: Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?
abstract: The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and Pallister-Hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects.
authors.affiliation: Department of Pediatrics, University of Virginia, Charlottesville 22908, USA.
authors.forename: V
authors.initials: V
authors.lastname: Shashi
authors.forename: P
authors.initials: P
authors.lastname: Clark
authors.forename: A D
authors.initials: AD
authors.lastname: Rogol
authors.forename: W G
authors.initials: WG
authors.lastname: Wilson
mesh_terms: D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007231:Infant, Newborn; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D010902:Pituitary Gland / Q000002:abnormalities*; D010907:Pituitary Hormones / Q000097:blood* / Q000627:therapeutic use; D013577:Syndrome; D013739:Testosterone / Q000097:blood; D013974:Thyroxine / Q000097:blood
chemical_list: D010907:Pituitary Hormones; D013739:Testosterone; D013974:Thyroxine; D006854:Hydrocortisone