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Case Reports
. 1988 Dec;136(12):824-7.

[7p-deletion syndrome]

[Article in German]
G K Hinkel  1 , E Tolkendorf, J Bergan
Affiliations
  • PMID: 3237228
Case Reports

[7p-deletion syndrome]

[Article in German]
G K Hinkel et al. Monatsschr Kinderheilkd. 1988 Dec.

Abstract

A similar pattern of dysmorphic features and congenital malformations was found in two infants, one with a larger terminal deletion of 7p13-pter and the other with a smaller interstitial deletion of 7p13-p15. The more prominent features of the syndrome include plagioturricephaly (which is caused by premature asymmetric closure of the frontal and coronal sutures), osseous defects of the parietal bones, short fingers, proximally implanted thumbs (in both), microphthalmia, congenital heart defect, and hydronephrosis (one). In addition, both patients revealed intrauterine and postnatal growth retardation and pronounced mental deficits.

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