Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype

J Zizka; J Charvat; A Baxova; P Balicek; K Kozlowski

doi:10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype

Am J Med Genet. 1998 Mar 19;76(3):213-6. doi: 10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r.

Authors

J Zizka¹, J Charvat, A Baxova, P Balicek, K Kozlowski

Affiliation

¹ University Hospital, Hradec Kralova, Czech Republic.

PMID: 9508239
DOI: 10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r

Abstract

We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently "new" form of chondrodysplasia punctata.

Publication types

Case Reports

MeSH terms

Adolescent
Chondrodysplasia Punctata / genetics*
Chondrodysplasia Punctata / pathology*
Coccyx / abnormalities
Female
Humans
Infant, Newborn
Karyotyping
Leg Length Inequality / pathology
Male
Phenotype
Pregnancy
Sacrum / abnormalities
Tarsal Bones / abnormalities