MICROCEPHALY, SEIZURES, GENITAL HYPOPLASIA, AND ABNORMALITIES OF THE HANDS AND FEET IN A 4-YEAR-OLD BOY WITH POSSIBLE WIEDEMANN SYNDROME

Citation
D. Wieczorek et al., MICROCEPHALY, SEIZURES, GENITAL HYPOPLASIA, AND ABNORMALITIES OF THE HANDS AND FEET IN A 4-YEAR-OLD BOY WITH POSSIBLE WIEDEMANN SYNDROME, Clinical genetics, 49(2), 1996, pp. 98-102
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
49
Issue
2
Year of publication
1996
Pages
98 - 102
Database
ISI
SICI code
0009-9163(1996)49:2<98:MSGHAA>2.0.ZU;2-U
Abstract
We report on a 4-year-old boy with short stature, microcephaly, BNS (B litz-Nick-Salaam) seizures, and global developmental delay. Ln additio n, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compare d with the patients previously described by Wiedemann et al. and Nevin et al. They reported three patients with a syndrome characterized by short stature, microcephaly, global developmental delay, abnormalities of hands and feet, seizures, large anterior fontanelle, scrotal hypop lasia, micropenis, cryptorchism, urinary tract abnormalities, and ingu inal hernia (Wiedemann syndrome).