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Perinatal imaging findings of inherited Sotos syndrome by Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Nan-Chang Chiu; Shin-Lin Shih; Chen-Ju Lin; Wayseen Wang; Hong-Chih Hsu is a Medicine article available to read on EtoBox.

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## Abstract ## Objectives Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. ## Case This was the second pregnancy of a 32‐year‐old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g,

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Author

Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Nan-Chang Chiu; Shin-Lin Shih; Chen-Ju Lin; Wayseen Wang; Hong-Chih Hsu

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

2002

Language

EN

Field

Medicine (Health Sciences)