Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome?
Wiedemann et al. (1985) described a rare syndrome characterised by microcephaly, psychomotor delay, short stature, short fingers and toes with stubby broad thumbs and halluces. Unilateral undescended testis, inguinal hernias, scrotal hypoplasia, and micropenis were also features. They described two males, first cousins, whose mothers and maternal grandfather had short broad thumbs and halluces. We report a male with identical features whose parents were normal. This is only the second report of this syndrome. Autosomal or X-linked dominant inheritance is most likely.
Nevin
N C
NC
Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
Stewart
F J
FJ
Corkey
C W
CW
Bell
B A
BA
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D001921:Brain / Q000000981:diagnostic imaging; D002658:Developmental Disabilities / Q000503:physiopathology; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000503:physiopathology*; D010413:Penis / Q000002:abnormalities; D012640:Seizures / Q000503:physiopathology*; D012886:Skull / Q000002:abnormalities; D014057:Tomography, X-Ray Computed