Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs

Magnetic resonance imaging abnormalities

Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

✍ Ohnuma, Kei; Imaizumi, Kiyoshi; Masuno, Mitsuo; Nakamura, Mihoko; Kuroki, Yoshik 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 3 views

Inheritance of the syndrome is suggested to be autosomal recessive. Electroencephalogram (EEG) was abnormal in four of five individuals studied. The brain computed tomography (CT) was abnormal in 9 of 10 individuals and the abnormalities included a small and thick vault, irregular margins of the ven