MICROCEPHALY WITH LARGE ANTERIOR FONTANELLE, GENERALIZED CONVULSIONS,MICROPENIS, AND DISTINCT ANOMALIES OF THE HANDS AND FEET - ANOTHER EXAMPLE OF WIEDEMANN SYNDROME

Citation
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
Citations number
4
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
46
Issue
2
Year of publication
1994
Pages
205 - 208
Database
ISI
SICI code
0009-9163(1994)46:2<205:MWLAFG>2.0.ZU;2-E
Abstract
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.