Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings. Is it a new autosomal recessive syndrome?

Balci S., Akcan B., Vargel I., Tumer C., Enacar A.

CLINICAL DYSMORPHOLOGY, vol.13, no.2, pp.71-74, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 2
  • Publication Date: 2004
  • Doi Number: 10.1097/01.mcd.0000124803.41308.de
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.71-74
  • Hacettepe University Affiliated: Yes

Abstract

We present a previously undescribed syndrome characterized by triangular facial appearance, mid-facial hypoplasia, cleft palate and mild sensorineural hearing loss in two siblings. The parents were unrelated. The patients' stature and intelligence were normal. We suggest that the inheritance is autosomal recessive.