Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type caroline crachami

B. Boscherini, F. Colabucci, C. Galasso, G. Marietti, M. Cappa, A. M. Pasquino

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a patient with primordial microcephalic dwarfism with severe intrauterine growth retardation and severe and progressive postnatal deficit in length, weight and head circumference. The patient was extroverted and sociable but mildly mentally retarded. He had marked delay of bone maturation and an enlargement of the sella turcica. This child and two previously reported patients [Boscherini et al., Eur J Pediatr 137:237-242, 1981] have many characteristics in common with Caroline Crachami, the famous 'Sicilian dwarf.' We think that these patients belong to a separate category of microcephalic primordial dwarfism.

Original languageEnglish
Pages (from-to)269-272
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume66
Issue number3
DOIs
Publication statusPublished - Dec 18 1996

Keywords

  • intrauterine growth retardation
  • microcephalic primordial dwarfism
  • osteodysplastic primordial dwarfism type III
  • Seckel syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Fingerprint Dive into the research topics of 'Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type caroline crachami'. Together they form a unique fingerprint.

Cite this