Filter by keywords:



Filtering documents. Please wait...

1/65. Nager syndrome. Problems and possibilities of therapy.

    The congenital Nager acrofacial dysostosis syndrome is presented, and possibilities and problems in the treatment of these patients are described. A case study of a patient who has been followed from birth to adulthood illustrates the surgical/orthodontic course of treatment and its limits.
- - - - - - - - - -
ranking = 1
keywords = dysostosis
(Clic here for more details about this article)

2/65. Flexor digitorum longus accessorius in the club foot of an infant with Nager syndrome.

    The case of a male infant is reported who had club foot on the right side and pes adductus on the left side in combination with acrofacial dysostosis; he also demonstrated preaxial anomalies of the upper limbs indicative of Nager syndrome. In addition, an unusual aberrant muscle was discovered during surgical correction of the right club foot.
- - - - - - - - - -
ranking = 1
keywords = dysostosis
(Clic here for more details about this article)

3/65. mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?

    We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager syndrome or Genee-Wiedemann syndrome and also from cerebro-costo-mandibular syndrome. As chromosome analysis revealed normal male karyotypes, we consider this to be a distinct heritable syndrome that may be either autosomal recessive or X-chromosomal recessive.
- - - - - - - - - -
ranking = 89.755493743076
keywords = mandibulofacial dysostosis, mandibulofacial, dysostosis
(Clic here for more details about this article)

4/65. Oto-mandibulo-facial dysostosis: a case report.

    The case presented here is a 6 year old male child with oto-mandibulo-facial dysostosis syndrome. Oto-mandibulo-facial dysostosis is a term used for a unilateral congenital birth defect in which abnormalities can range from minor unilateral ear anomalies or preauricular tags to severe ones involving anotia and mandibular hypoplasia.
- - - - - - - - - -
ranking = 6
keywords = dysostosis
(Clic here for more details about this article)

5/65. Anaesthetic implications of Nager syndrome.

    Nager acrofacial dysostosis is an oromandibular hypogenesis syndrome with associated limb abnormalities. Although it shares some phenotypic features with Treacher-Collins syndrome, it is recognized as a separate disorder. The physical features of Nager syndrome include down slanted palpebral fissures, malar hypoplasia, a high nasal bridge, atretic external auditory canals, cleft palate and micrognathia. Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones. Of primary concern to the anaesthetist are the midface and mandibular manifestations which may complicate perioperative airway management. These problems may also manifest in the postoperative period with airway obstruction. Associated defects have included vertebral malformations with reports of cervical spine involvement, congenital cardiac defects and upper limb defects affecting the preaxial or radial side. We describe a 7-year-old boy with Nager syndrome who required anaesthetic care during placement of a syringopleural shunt for drainage of a spinal cord syrinx. The perioperative implications of this disorder are reviewed.
- - - - - - - - - -
ranking = 1
keywords = dysostosis
(Clic here for more details about this article)

6/65. Further delineation of mandibulofacial dysostosis: Toriello type.

    We report a boy who presented with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism. The pattern of malformations differs from the classical Treacher Collins syndrome. We consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features.
- - - - - - - - - -
ranking = 257.26648122923
keywords = mandibulofacial dysostosis, mandibulofacial, dysostosis
(Clic here for more details about this article)

7/65. prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.

    The group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484-489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation.
- - - - - - - - - -
ranking = 5
keywords = dysostosis
(Clic here for more details about this article)

8/65. A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS).

    Nager acrofacial dysostosis is characterized by radial defect and the facial manifestations like Treacher-Collins syndrome. There are few reports about this syndrome in japan. We report a typical Japanese Nager syndrome patient. He was complicated with respiratory distress syndrome.
- - - - - - - - - -
ranking = 5
keywords = dysostosis
(Clic here for more details about this article)

9/65. Prenatal ultrasound diagnosis of Nager syndrome.

    Nager syndrome, or acrofacial dysostosis, is a rare malformation complex characterized by facial anomalies (external ear abnormalities and micrognathia) and limb defects (radial hypoplasia and absence of the thumb and/or other digits). Since its first description in 1948, more than 80 cases have been reported in the pediatric literature. However, there is only one previous report on the prenatal recognition of the syndrome, which was at 30 weeks of gestation. We report here a further case of Nager syndrome, prospectively diagnosed at 23 weeks of gestation.
- - - - - - - - - -
ranking = 1
keywords = dysostosis
(Clic here for more details about this article)

10/65. The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher Collins syndrome.

    Upper airway obstruction and difficult tracheal intubation are often encountered in patients with Treacher Collins syndrome (mandibulofacial dysostosis). In this case report, the use of a laryngeal mask airway (LMATM) in a 10-day-old newborn with severe Treacher Collins syndrome and acute airway obstruction is described. It successfully relieved the airway obstruction and was left in situ for an exceptionally long period of 4 days. The difficult decisions with respect to the management of the airway and specifically the role of the laryngeal mask are described. In our opinion, in some newborns with severe mandibulofacial disorders and upper airway obstruction, where conservative airway management procedures have failed, the laryngeal mask can be considered not only to relieve the obstruction but also to buy time until there is full insight into the medical condition and its consequences.
- - - - - - - - - -
ranking = 54.432827112958
keywords = mandibulofacial dysostosis, mandibulofacial, dysostosis
(Clic here for more details about this article)
| Next ->


Leave a message about 'Mandibulofacial Dysostosis'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.