Antley‐Bixler syndrome from a prognostic perspective. Report of a case and review of the literature

Lf, Escobar; Bixler, David; Sadove, Michael; Mj, Bull

doi:10.1002/ajmg.1320290412

Cited by 34 publications

(23 citation statements)

References 6 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There is increased mortality in the neonatal period and during the fi rst year of life due primarily to the severe midface hypoplasia, choanal stenosis, and associated infections and respiratory failure ( 234,318 ). Aggressive and careful management of the airway, with tracheostomy if needed, can improve the overall prognosis.…”

Section: Abnormalities Of Sterol Metabolismmentioning

confidence: 99%

Malformation syndromes caused by disorders of cholesterol synthesis

Porter

Herman

2011

Journal of Lipid Research

407

440

View full text Add to dashboard Cite

Section: Abnormalities Of Sterol Metabolismmentioning

confidence: 99%

Malformation syndromes caused by disorders of cholesterol synthesis

Porter

Herman

2011

Journal of Lipid Research

407

440

View full text Add to dashboard Cite

“…The main anomalies can be subdivided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies, as shown in table 1 [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 30, 31, 32, 33, 34, 35]. …”

Section: Discussionmentioning

confidence: 99%

Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

2001

View full text Add to dashboard Cite

Objective: Antley-Bixler syndrome (ABS) is a rare disorder characterized by multiple malformations of cartilage and bone including multisynostotic osteodysgenesis, midface hypoplasia, choanal atresia or stenosis, femoral bowing, neonatal fractures and multiple joint contractures and, occasionally, urogenital, gastrointestinal or cardiac defects. Since the first report in 1975, at least 34 cases (including this report) have been described. We present 2 cases of congenital hydrocephalus, suggesting the cause of craniosynostosis and midface hypoplasia is associated with ABS. Clinical Presentation: The first case was a 1-day-old female with Arnold-Chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development. Discussion: The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months. Conclusion: Early correction of craniosynostosis was feasible and safe for one of our patients. We offer our experience in the treatment of hydrocephalus and correction of craniosynostosis to relieve IICP.

show abstract

“…The onset of this syndrome has been reported to be associated with marriage between siblings or blood relatives 3) and autosomally recessive inheritance 2) has been suggested. In other types of craniosynostosis such as Crouzon's syndrome, mutation of the FGFR2 gene has been reported.…”

Section: Case Presentationmentioning

confidence: 99%

A Case of Antley-Bixler Syndrome With Severe Skeletal Cl. Iii Malocclusion

Sueishi

Yatabe

Yamaguchi

2004

Bull. Tokyo Dent. Coll.

View full text Add to dashboard Cite

Antley-Bixler syndrome is a disorder characterized by craniosynostosis, midface hypoplasia, choana blockade, and radiohumeral synostosis. However, the features of occlusion remain unclear.In this paper, we report a case of Antley-Bixler syndrome, a 7-year-old boy, from the viewpoint of orthodontics. From lateral cephalometric head film analysis, remarkable retardation of the anterior subcranial base, infraorbitale, and maxilla were notable, as was vertical growth restriction of the maxilla. The choana blockade tendency was also recognized.Moreover, although reverse occlusion was present, a mandibular retrognathic tendency was also present, and a short ramus mandible, remarkable mandibular vertical growth pattern, and skeletal open bite were present. In the dentition, two of the lower incisors were missing, and the present lower incisors were large. Maxillary and mandibular first molars were delayed in eruption.For treatment, the solutions to such remarkable skeletal problems were limited by the insufficiency of recovery of cranial formation after the operation. We planned a non-surgical treatment to expand the maxilla.It will be necessary to continually consider the treatment of his malocclusion as he continues to grow.

show abstract

Antley‐Bixler syndrome from a prognostic perspective. Report of a case and review of the literature

Cited by 34 publications

References 6 publications

Malformation syndromes caused by disorders of cholesterol synthesis

Malformation syndromes caused by disorders of cholesterol synthesis

Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

A Case of Antley-Bixler Syndrome With Severe Skeletal Cl. Iii Malocclusion

Contact Info

Product

Resources

About