Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation

Arturo Naselli, Marina Vignolo, Eliana Di Battista, Valeria Papale, Giorgio Aicardi, Stelvio Becchetti, Paolo Tomà

Research output: Contribution to journalArticlepeer-review

Abstract

A pair of monozygotic twin girls with trichorhinophalangeal syndrome type I (TRPS I), followed from 8.3 to 16.1 years of age, is described. Both showed typical dysmorphic features and severe short stature, but only one had Perthes-like changes in the right capital femoral epiphysis. The radiographic findings and evolutionary changes of phalangeal cone-shaped epiphyses (PCSE) of the hands are illustrated in this report. The unusual bone maturation and growth of the twins are also described. Both presented poor growth and delayed bone age until about 13 years, followed by marked acceleration of bone age and stunted pubertal height spurt.

Original languageEnglish
Pages (from-to)851-855
Number of pages5
JournalPediatric Radiology
Volume28
Issue number11
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Pediatrics, Perinatology, and Child Health
  • Radiological and Ultrasound Technology

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