Marfanoid phenotype with craniosynostosis (Shprintzen-Goldberg syndrome) is a rare disorder previously described in only 5 patients. We report on the sixth known patient with this condition. The findings which distinguish our patient from others reported previously are that she was ascertained prenatally as having a cloverleaf skull; this is the first female patient described with this condition. Postnatally, she presented with arachnodactyly, camptodactyly, and clover-leaf skull. Imaging studies of the brain documented microcephaly with malformed brain, hydrocephaly, and hypoplasia of the corpus callosum. She also had choanal atresia and stenosis, a clinical finding previously reported only once, in this disorder.
Marfanoid phenotype with craniosynostosis ( Shprintzen - Goldberg syndrome ) is a rare disorder previously described in only 5 patients . We report on the sixth known patient with this condition . The findings which distinguish our patient from others reported previously are that she was ascertained prenatally as having a cloverleaf skull ; this is the first female patient described with this condition . Postnatally , she presented with arachnodactyly , camptodactyly , and clover - leaf skull . Imaging studies of the brain documented microcephaly with malformed brain , hydrocephaly , and hypoplasia of the corpus callosum . She also had choanal atresia and stenosis , a clinical finding previously reported only once , in this disorder .
Which disease is included as an additional feature in the Goldberg-Shprintzen syndrome?
Which disease is included as an additional feature in the Goldberg - Shprintzen syndrome ?
Craniosynostosis
Craniosynostosis