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Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

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Abstract

Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome), growth and mental retardation, microcephaly, ear and nose dysmorphism and joint and digit abnormalities. We report on a 3-year-old girl with the phenotype of BPES, mental retardation, facial dysmorphism and camptodactyly. In addition, she had a congenitally small larynx and severe, chronic feeding difficulties. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q23-q25)

Conclusion Congenital laryngostenosis and severe feeding problems may be part of the clinical syndrome caused by chromosome 3q23 deletion.

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Authors and Affiliations

  1. Division of Molecular Cell Biology and Genetics, Maastricht University, Maastricht, The Netherlands, , , , , , NL

    K. E. Chandler, C. E. M. de Die-Smulders & J. J. M. Engelen

  2. Department of Paediatrics, Academic Hospital, Maastricht, The Netherlands, , , , , , NL

    J. J. P. Schrander

  3. Department of Clinical Genetics, P.O. Box 1475, 6201 Maastricht, The Netherlands Tel.: 31-43-3875855; Fax: 31-43-3877877, , , , , , NL

    C. E. M. de Die-Smulders

Authors
  1. K. E. Chandler
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  2. C. E. M. de Die-Smulders
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  3. J. J. M. Engelen
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  4. J. J. P. Schrander
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  5. C. E. M. de Die-Smulders
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Received: 28 January 1997 / Accepted: 25 February 1997

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Chandler, K., de Die-Smulders, C., Engelen, J. et al. Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion. Eur J Pediatr 156, 636–638 (1997). https://doi.org/10.1007/s004310050681

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  • DOI: https://doi.org/10.1007/s004310050681

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