非表示:
キーワード:
Abnormalities, Multiple/genetics/*pathology; Adult; Breast Diseases/*pathology; Child; Child, Preschool; Face/*abnormalities; Family Health; Female; Fingers/abnormalities; Humans; Infant; Male; Middle Aged; Mutation; Pedigree; Syndrome; T-Box Domain Proteins/genetics; Ulna/*abnormalities; Young Adult
要旨:
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.
