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. 1992 Nov;29(11):827–830. doi: 10.1136/jmg.29.11.827

Orofaciodigital syndrome type I in a girl with unilateral tibial pseudarthrosis.

K H Orstavik 1, S E Tangsrud 1, T Nordshus 1, A M Finnanger 1, C Hellum 1, E Gjessing 1
PMCID: PMC1016182  PMID: 1453437

Abstract

The orofaciodigital syndromes are a group of possibly seven different malformation syndromes including oral, facial, and digital malformations. Type I has X linked dominant inheritance whereas the other types show autosomal recessive inheritance. An exact diagnosis is therefore important for genetic counselling. We here report a girl with orofaciodigital syndrome type I. She had cystic kidney disease at the age of 8 months which has not previously been reported in an infant with orofaciodigital syndrome. In addition she had unilateral tibial pseudarthrosis which has only rarely been reported in the orofaciodigital syndromes and in type II only.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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