title: Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?
abstract: We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities of the iris stroma. The birth of an affected offspring suggests that this syndrome is likely to have autosomal dominant inheritance. The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for Short stature, Hyperextensible joints, Ocular depression, Rieger anomaly and abnormalities of the Teeth. The relationship of the syndrome to the SHORT syndrome is discussed.
authors.affiliation: Victorian Clinical Genetics Service, Melbourne, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Bankier
authors.forename: C G
authors.initials: CG
authors.lastname: Keith
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005317:Fetal Growth Retardation; D018740:Genetic Heterogeneity; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D007499:Iris Diseases / Q000151:congenital* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011379:Prognosis; D013008:Somatotypes; D013577:Syndrome