title: The face of Ulnar Mammary syndrome?
abstract: Ulnar Mammary syndrome (UMS) is an autosomal disorder caused by haploinsufficiency of the TBX3 gene. There is marked intrafamilial variation in expression of the syndrome. We present one three generation family in which the proband has absence of the right ulna and third, fourth and fifth rays in her right hand. Her mother and maternal grandmother have more subtle anomalies while all have a similar facial appearance with a broad nasal tip, a broad jaw, a prominent chin and a tongue frenulum. They have a single base pair insertion (c. 992dup) in TBX3. We compare faces from the handful of published UMS patients which include photographs, this family and four other cases with TBX3 mutations. All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or short stature with or without growth hormone deficiency.
authors.affiliation: Yorkshire Regional Genetics Centre, Ward 10, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 9TF, England, UK. shelagh.joss@ggc.scot.nhs.uk
authors.forename: Shelagh
authors.initials: S
authors.lastname: Joss
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
authors.forename: Richard
authors.initials: R
authors.lastname: Fisher
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Katrina
authors.initials: K
authors.lastname: Prescott
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001941:Breast Diseases / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics; D014457:Ulna / Q000002:abnormalities*; D055815:Young Adult
chemical_list: D020825:T-Box Domain Proteins; C106884:TBX3 protein, human