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

Güven M., Ceylaner G., Ceylaner S., Uzel M., Coskun A.

Genetic Counseling, cilt.20, sa.2, ss.167-172, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Sayı: 2
  • Basım Tarihi: 2009
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.167-172
  • Anahtar Kelimeler: Cleft lip, Cleft Palate, Oral-Facial-Digital syndrome, Anomaly, Prenatal Diagnosis, TOWNES-BROCKS-SYNDROME, OCULOAURICULOVERTEBRAL SPECTRUM, ANOMALIES, DYSPLASIA, MALFORMATION, FAMILY
  • Kocaeli Üniversitesi Adresli: Evet

Özet

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.