Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.

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

Back to search

Article

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.

American journal of medical genetics - 19 Mar 1998

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

Abstract excerpt

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.

Topics

Adolescent
Chondrodysplasia Punctata
Coccyx
Female
Humans
Infant, Newborn
Karyotyping
Leg Length Inequality
Male
Phenotype
Pregnancy
Sacrum
Tarsal Bones

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.