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Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs — a “new” syndrome?

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Abstract

This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a “new” probably monogenic syndrome.

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Abbreviations

MA:

multiple anomalies

MR:

mental retardation

CHD:

congenital heart disease

ASD:

atrial septal defect

VSD:

ventricular septal defect

PA:

pulmonary artery

PDA:

patent ductus arteriosus

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Author information

Authors and Affiliations

  1. Institut für Humangenetik, Schwabachanlage 10, D-8520, Erlangen, Federal Republic of Germany

    R. A. Pfeiffer

  2. Kardiologische Abteilung der Universitäts-Kinderklinik, Erlangen-Nürnberg, Federal Republic of Germany

    H. Singer

  3. Poliklinik für Kieferorthopädie, Erlangen-Nürnberg, Federal Republic of Germany

    S. Zschiesche

Authors
  1. R. A. Pfeiffer
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  2. H. Singer
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  3. S. Zschiesche
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Pfeiffer, R.A., Singer, H. & Zschiesche, S. Sagittal craniostenosis, congenital heart disease, mental deficiency and various dysmorphies in two sibs — a “new” syndrome?. Eur J Pediatr 146, 75–78 (1987). https://doi.org/10.1007/BF00647293

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  • DOI: https://doi.org/10.1007/BF00647293

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