A CASE OF KEUTEL SYNDROME DIAGNOSED IN THE NEONATAL PERIOD: ASSOCIATED WITH BINDER PHENOTYPE


Demirel G., Oguz S. S. , Celik I. H. , Erdeve O., Uras N., Dilmen U.

GENETIC COUNSELING, cilt.23, sa.1, ss.25-30, 2012 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 23 Konu: 1
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.25-30

Özet

A case of Kernel syndrome diagnosed in the neonatal period: associated with Binder phenotype: Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.