European Journal of Pediatrics

, Volume 154, Issue 2, pp 130–133

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

  • B. P. LeHeup
  • J. P. Masutti
  • P. Droullé
  • J. Tisserand
Medical Genetics Original Paper

DOI: 10.1007/BF01991916

Cite this article as:
LeHeup, B.P., Masutti, J.P., Droullé, P. et al. Eur J Pediatr (1995) 154: 130. doi:10.1007/BF01991916

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.

Key words

Antley-Bixler syndrome Imperforate anus Kidney malformation Urogenital malformation 

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • B. P. LeHeup
    • 1
    • 2
  • J. P. Masutti
    • 1
  • P. Droullé
    • 3
  • J. Tisserand
    • 4
  1. 1.Laboratoire d'Histologie et EmbryologieVandoeuvre les Nancy CedexFrance
  2. 2.Secteur de FoetopathologieLaboratoire de Biologie SexuelleMaternité Régionale de NancyFrance
  3. 3.Service de Radiologie et d'EchographieMaternité Régionale, NancyFrance
  4. 4.Service d'ObstétriqueHôpital de RemiremontNancyFrance

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