Mohr syndrome in two sisters: Prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both

Balci S., Guler G., Kale G., Soylemezoglu F., Besim A.

PRENATAL DIAGNOSIS, cilt.19, sa.9, ss.827-831, 1999 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 9
  • Basım Tarihi: 1999
  • Dergi Adı: PRENATAL DIAGNOSIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.827-831
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Oral-facial-digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first described by Mohr (1941). We present two sisters with Mohr syndrome from a consanguineous family. One is a three-day-old female patient, the other is 22-week-old fetus. Polydactyly with bifid thumbs in both hands, bilateral polysyndactyly of halluces, lateral polysyndactyly and bilateral pes equinovarus were demonstrated in the fetus sonographically. Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients. In addition, post-mortem findings showed absence of olfactory nerve, single atrium, VSD, abnormal lung lobulation and natal teeth in the fetus. Absence of olfactory nerve and natal teeth have not been reported previously in Mohr syndrome. Copyright (C) 1999 John Wiley & Sons, Ltd.