A NEW CASE OF HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME WITH ALOBAR HOLOPROSENCEPHALY, PREAXIAL POLYDACTYLY AND CONGENITAL GLAUCOMA


Sandal G., Tok L., Ormeci A. R.

GENETIC COUNSELING, cilt.25, ss.49-52, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 25 Konu: 1
  • Basım Tarihi: 2014
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.49-52

Özet

We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (<10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.