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The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies

  • Medical Genetics
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Abstract

The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities.

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References

  1. Antley R, Bixler D (1975) X-Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects 11:397–401

    Google Scholar 

  2. Baraitser M, Winter R (1992) London Dysmorphology Data Base. Electronic Publishing, Oxford University Press

  3. Bianchi E, Cordini S, Fiori P, Torcetta F, Beluffi G (1991) Antley-Bixler syndrome: description of two patients. Skeletal Radiol 20:339–343

    Article  PubMed  Google Scholar 

  4. DeLozier CD, Antley RM, Williams R, Green N, Heller RM, Bixler D, Engel E (1980) The syndrome of multisynostotic osteodysgenesis with long bone fractures. Am J Med Genet 7:391–403

    Article  PubMed  Google Scholar 

  5. Escobar LF, Weaver DD, Bixler D, Hodes ME, Mitchell M (1987) Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child 141:1021–1024

    PubMed  Google Scholar 

  6. Escobar LF, Bixler D, Sadove M, Bull MJ (1988) Antley-Bixler syndrome from a prognostic perspective: Report of a case and review of the literature. Am J Med Genet 29:829–836

    Article  PubMed  Google Scholar 

  7. Herva R, Seppanen U (1985) Multisynostotic osteodysgenesis. Pediatr Radiol 15:63–64

    PubMed  Google Scholar 

  8. Pincus RL, Urbina MC, Gallo RA, De-Frietas J (1991) The otolaryngologic manifestations of the Antley Bixler syndrome. Otolaryngol Head Neck Surg 104:276–278

    PubMed  Google Scholar 

  9. Robert E, Bethenod M, Bourgeois J (1984) Le syndrome d'Antley-Bixler. Revue de la littérature, à propos d'une observation personnelle. J Genet Hum 32:291–298

    PubMed  Google Scholar 

  10. Robinson LK, Powers NG, Dunklee P, Sherman S, Jones KL (1982) The Antley-Bixler syndrome. J Pediatr 101: 201–205

    PubMed  Google Scholar 

  11. Savoldelli G, Schinzel A (1982) Prenatal ultrasound detection of humeroradial synostosis in a case of Antley-Bixler syndrome. Prenat Diagn 2: 219–223

    PubMed  Google Scholar 

  12. Schinzel A, Savoldelli G, Briner J, Sigg P, Massini C (1983) Antley-Bixler syndrome in sisters: A term newborn and a prenatally diagnosed fetus. Am J Med Genet 14:139–147

    Article  PubMed  Google Scholar 

  13. Van der Putte SCJ (1986) Normal and abnormal development of the anorectum. J Pediatr Surg 21:434–440

    PubMed  Google Scholar 

  14. Wenstrup RJ, Pagon RA (1985) Female pseudohermaphroditism with anorectal, mullerian duct, and urinary tract malformations: report of four cases. J Pediatr 107:751–754

    PubMed  Google Scholar 

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LeHeup, B.P., Masutti, J.P., Droullé, P. et al. The Antley-Bixler syndrome: Report of two familial cases with severe renal and anal anomalies. Eur J Pediatr 154, 130–133 (1995). https://doi.org/10.1007/BF01991916

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  • DOI: https://doi.org/10.1007/BF01991916

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