Distal limb deficiencies, oral involvement, and renal defect: report of a third patient and confirmation of a distinct entity.
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. .
Keymolen
K
K
Center for Human Genetics, University of Leuven, Belgium.
Van Damme-Lombaerts
R
R
Verloes
A
A
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D008297:Male; D008844:Micrognathism / Q000473:pathology*; D009216:Myopia / Q000473:pathology; D009679:Nuclear Family; D011859:Radiography