Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull

Am J Med Genet. 1995 Jul 17;57(4):573-8. doi: 10.1002/ajmg.1320570411.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Brain / abnormalities*
  • Craniosynostoses / pathology*
  • Female
  • Fetal Diseases / diagnostic imaging
  • Finger Joint / abnormalities
  • Humans
  • Infant, Newborn
  • Marfan Syndrome / genetics
  • Marfan Syndrome / pathology*
  • Phenotype
  • Pregnancy
  • Skull / abnormalities*
  • Ultrasonography, Prenatal