Corpus ID: 45797129

Nager acrofacial dysostosis. An adult male with severe neurological deficit.

  title={Nager acrofacial dysostosis. An adult male with severe neurological deficit.},
  author={J. Fryns and A. Bonhomme and H. van den Berghe},
  journal={Genetic counseling},
  volume={7 2},
In this report we describe a 50-year old male with Nager Acrofacial Dysostosis. In addition to the typical maxillofacial dysostosis and the bilateral thumb hypoplasia, he presented a severe neurological syndrome with spastic diplegia, hemiparesis of the left arm, and agenesis of the corpus callosum on CT-scan. He died at the age of 50 years from congestive heart failure due to a complete AV-block. 
Nager syndrome (preaxial acrofacial dysostosis): a case report.
A case of the Nager syndrome occurring in a 4-year-old boy showing microdontia, thumb duplication and radioulnar synostosis, and ventricular septum defect, characteristics not usually encountered in the published cases are featured. Expand
Nager syndrome: a case report.
  • Ju-li Lin
  • Medicine
  • Pediatrics and neonatology
  • 2012
Nager syndrome (preaxial acrofacial dysostosis) is rare and mostly sporadic in Taiwan and Nasal endotube passing through a narrowing oropharynx region or oral airway is life-saving before tracheostomy is performed on patients with Nager syndrome. Expand
A.B.R. in Nager type acrofacial dysostosis syndrome
  • A. Mishra, G. K. Shukla, N. Bhatia
  • Medicine
  • Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
  • 1999
This work presents a case with sensorineural involvement, along with its analysis of auditory brainstem evoked response audiometry (ABR) in Nager’s syndrome, a very rare hereditary syndrome with findings of mandibulofacial dysostosis. Expand
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An 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex. Expand
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In the presented case of Parry-Romberg syndrome a rare association to ophthalmological involvement could be found and also a panuveitis with papillitis should be treated by steroid therapy. Expand
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This article reviews the evaluation and management considerations for patients with Treacher Collins syndrome and considers reconstructive options based on the dysmorphology and the growth velocity of each anatomic region. Expand
Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany
It is proposed that the condition is acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) in combination with club foot, tibial torsion, and single umbilical artery. Expand