Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.
We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmental delay. In addition, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compared 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 hypoplasia, micropenis, cryptorchism, urinary tract abnormalities, and inguinal hernia (Wiedemann syndrome).
Wieczorek
D
D
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
Gillessen-Kaesbach
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G
Plewa
S
S
Passarge
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D005532:Foot Deformities, Congenital / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009123:Muscle Hypotonia / Q000235:genetics; D012640:Seizures / Q000235:genetics; D013577:Syndrome; D014057:Tomography, X-Ray Computed