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An unusual, possibly “new” MA/MR syndrome with sagittal craniosynostosis


This report is on a mentally retarded, male child with multiple anomalies: sagitall craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd–4th toes and perineoscrotal hypospadias.

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multiple anomalies


mental retardation


  1. 1.

    Cohen MM (1979) Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects XV, 5B:13–63

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    David DJ, Poswillo D, Simpson D (1982) The craniosynostoses. Causes, natural history, and management. Springer, Berlin Heidelberg New York

  3. 3.

    Pfeiffer RA, Singer H, Zschiesche S (1987) Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs — a “new” syndrome? Eur J Pediatr 146:75–78

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Correspondence to R. A. Pfeiffer.

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Pfeiffer, R.A., Tietze, U. & Welte, W. An unusual, possibly “new” MA/MR syndrome with sagittal craniosynostosis. Eur J Pediatr 146, 74–75 (1987).

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Key words

  • Sagittal craniostenosis syndrome
  • Coloboma of the iris
  • Split hand anomaly
  • Syndactyly of toes
  • Perineoscrotal hypospadias