Wiedemann-Steiner syndrome: three further cases.
We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. These patients expand the phenotype of the Wiedemann-Steiner syndrome and delineate it as an entity.
Koenig
Rainer
R
Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany. r.koenig@em.uni-frankfurt.de
Meinecke
Peter
P
Kuechler
Alma
A
Schäfer
Dieter
D
Müller
Dietmar
D
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D011596:Psychomotor Disorders