MICROCEPHALY WITH LARGE ANTERIOR FONTANELLE, GENERALIZED CONVULSIONS,MICROPENIS, AND DISTINCT ANOMALIES OF THE HANDS AND FEET - ANOTHER EXAMPLE OF WIEDEMANN SYNDROME
Nc. Nevin et al., MICROCEPHALY WITH LARGE ANTERIOR FONTANELLE, GENERALIZED CONVULSIONS,MICROPENIS, AND DISTINCT ANOMALIES OF THE HANDS AND FEET - ANOTHER EXAMPLE OF WIEDEMANN SYNDROME, Clinical genetics, 46(2), 1994, pp. 205-208
Wiedemann et al. (1985) described a rare syndrome characterised by mic
rocephaly, psychomotor delay, short stature, short fingers and toes wi
th stubby broad thumbs and halluces. Unilateral undescended testis, in
guinal hernias, scrotal hypoplasia, and micropenis were also features.
They described two males, first cousins, whose mothers and maternal g
randfather 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.