Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

Abstract

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.

• Authors: Noriaki Kikuchi, Toshihiko Ogino, Hideo Kashiwa, Yasuteru Muragaki
• Journal: Congenital anomalies (Congenit Anom (Kyoto)) Vol. 47 Issue 3 Pg. 105-7 (Sep 2007) ISSN: 0914-3505 [Print] Australia
• PMID: 17688470 (Publication Type: Case Reports, Journal Article)

Topics

• Bone and Bones (diagnostic imaging)
• Chondromatosis (diagnosis, genetics)
• Chromosome Deletion
• Chromosome Mapping
• Chromosomes, Human, Pair 8
• DNA Mutational Analysis
• Diagnosis, Differential
• Epiphyses (diagnostic imaging)
• Exostoses, Multiple Hereditary (diagnosis, genetics)
• Facies
• Female
• Humans
• Infant
• Langer-Giedion Syndrome (diagnosis, genetics)
• Metacarpal Bones (diagnostic imaging)
• Radiography