Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.
We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangeal syndrome, type II. However, despite physical resemblance to the trichorhinophalangeal syndrome variants, cytological analysis showed a structurally normal chromosome 8 and no mental deficiency was apparent. In addition, morphological congruities between multiple exostoses and metachondromatosis was indicated from radiographic findings.
Kikuchi
Noriaki
N
Department of Orthopaedic Surgery, Yamagata University School of Medicine, Yamagata, Japan. nkikuchi@med.id.yamagata-u.ac.jp
Ogino
Toshihiko
T
Kashiwa
Hideo
H
Muragaki
Yasuteru
Y
D001842:Bone and Bones / Q000000981:diagnostic imaging; D018210:Chondromatosis / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004838:Epiphyses / Q000000981:diagnostic imaging; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D015826:Langer-Giedion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D050279:Metacarpal Bones / Q000000981:diagnostic imaging; D011859:Radiography