Prenatal diagnosis of a case probably with oral-facial-digital syndrome - Gabrielli type

Güven M., CEYLANER G., CEYLANER S., ÜZEL M., Coskun A.

Genetic Counseling, vol.20, no.2, pp.167-172, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 2
  • Publication Date: 2009
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.167-172
  • Keywords: Cleft lip, Cleft Palate, Oral-Facial-Digital syndrome, Anomaly, Prenatal Diagnosis, TOWNES-BROCKS-SYNDROME, OCULOAURICULOVERTEBRAL SPECTRUM, ANOMALIES, DYSPLASIA, MALFORMATION, FAMILY
  • Lokman Hekim University Affiliated: No


We report here a case with microcephaly, preauricular pits, cleft lip-palate, hypertelorism, multiple frenula and preaxial polydactyly. The clinical picture overlaps with many syndromes, but it is mostly consistent with oral-facial-digital syndrome, Gabrielli type. There are no previously reported cases of this syndrome presenting also with microcephaly. On the other hand, it is hard to differentiate this clinical picture from Goldenhar syndrome (Oculo-auriculo-vertebral spectrum), and oculo-auriculo-fronto-nasal syndrome because of many overlapping features.