Oculo‐palato‐cerebral dwarfism: a new syndrome

Moshe Frydman*, Arieh Kauschansky, Israel Leshem, Hanna Savir

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo‐palato‐cerebral dwarfism syndrome.

Original languageEnglish
Pages (from-to)414-419
Number of pages6
JournalClinical Genetics
Issue number4
StatePublished - Apr 1985


  • Asthma
  • cleft palate
  • mental retardation
  • microcephaly
  • short stature
  • spastic tetraplegia
  • vitreous disease


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