title: Trichorhinophalangeal syndrome type II presenting with short stature in a child.
abstract: Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas. We report a Turkish patient who had the clinical features and skeletal signs of TRPSII in whom a 13.8Mb deletion in 8q23.1- 8q24.13 was detected.
authors.affiliation: Dr. Behcet Uz Children Disease and Surgery Training, Izmir, Turkey.|Research Hospital, Department of Genetics, Izmir, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Hazan
authors.affiliation: Dr. Behcet Uz Children Disease and Surgery Training, Izmir, Turkey.|Research Hospital, Department of Pediatric Endocrinology, Izmir, Turkey. drkorkmazanil@hotmail.com.
authors.forename: Hüseyin A
authors.initials: HA
authors.lastname: Korkmaz
authors.affiliation: Duzen laboratory Groups, Department of Genetics, Ankara, Turkey.
authors.forename: Kanay
authors.initials: K
authors.lastname: Yararbaş
authors.affiliation: Department of Medical Genetics, Antwerp University Hospital, Belgium.
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.affiliation: Ankara University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tükün
mesh_terms: D002648:Child; D004392:Dwarfism / Q000209:etiology; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype
keywords: Chromosome deletion; Short height; Trichorhinophalangeal syndrome type II