Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia

Alessandro Castriota-Scanderbeg, Leopoldo Zelante, Salvatore Masala, Paolo Gasparini, Ralph S. Lachman

Research output: Contribution to journalArticle

Abstract

We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/aplastic changes of the bones of the hands and feet with dysharmonic ossification, severely delayed bone age, microcrania, and fibular hypoplasia. Parental consanguinity suggests autosomal recessive inheritance. An additional three cases [Eiken et al., 1984: Eur J Pediatr 141: 231-235] sharing some of the radiographic manifestations of this patient have been reported. However, distinctive findings in the present case seem to outline a separate entity.

Original languageEnglish
Pages (from-to)68-73
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume84
Issue number1
DOIs
Publication statusPublished - May 7 1999

Keywords

  • Acrodysplasia
  • Brachydactyly
  • Ossification delay

ASJC Scopus subject areas

  • Genetics(clinical)

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