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
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).