A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?

Percin E., Duzcan F., Kafali G., Sezgin I.

CLINICAL GENETICS, cilt.48, sa.5, ss.264-267, 1995 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 48 Sayı: 5
  • Basım Tarihi: 1995
  • Doi Numarası: 10.1111/j.1399-0004.1995.tb04102.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.264-267
  • Sivas Cumhuriyet Üniversitesi Adresli: Hayır

Özet

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.