Roberts syndrome or 'X-linked amelia'?

R. Gershoni-Baruch, A. Drugan, M. Bronshtein, E. Z. Zimmer

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a syndrome of tetra-amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, 'X-linked amelia' is proposed.

Original languageEnglish
Pages (from-to)569-572
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume37
Issue number4
DOIs
StatePublished - 1990
Externally publishedYes

Keywords

  • autosomal recessive inheritance
  • Roberts syndrome
  • SC phocomelia
  • tetra-amelia
  • X-linked inheritance

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Roberts syndrome or 'X-linked amelia'?'. Together they form a unique fingerprint.

Cite this