A new probably autosomal recessive cardiomelic dysplasia with mesoaxial hexadactyly

A distinct probably autosomal recessive syndrome was ascertained in a 17-year-old boy and his deceased sister. The main features were cardiac dysplasia, peculiar facies, central bilateral (mesoaxial) hexadactyly, synmetacarpalia, short stature, ocular torticollis, and delayed puberty.

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Martínez, R Martínez Y, Corona-Rivera, E, Jiménez-Martínez, M, Ocampo-Campos, R, García-Maravilla, S, Cantú, J M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1981
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048692/
https://ncbi.nlm.nih.gov/pubmed/7241534
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky