Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity

K Keymolen; R Van Damme-Lombaerts; A Verloes; J P Fryns

Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity

Am J Med Genet. 2000 Jul 3;93(1):19-21.

Authors

K Keymolen¹, R Van Damme-Lombaerts, A Verloes, J P Fryns

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 10861677

Abstract

In 1987 Buttiens and Fryns [1987: Am J Med Genet 27:651-660] reported on two sibs, brother and sister, with severe distal limb defects, micrognathia, and mild to moderate mental retardation. The male also showed severe myopia and oligomeganephronia. To the best of our knowledge, no other similar patients have been described since. We report on a boy with a similar phenotype. .

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnostic imaging
Abnormalities, Multiple / pathology*
Female
Humans
Infant, Newborn
Intellectual Disability / pathology
Kidney / abnormalities*
Limb Deformities, Congenital / diagnostic imaging
Limb Deformities, Congenital / pathology*
Male
Micrognathism / pathology*
Myopia / pathology
Nuclear Family
Radiography