Article
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.
American journal of medical genetics - 17 Jul 1995
Saal H M, Bulas D I, Allen J F, Vezina L G, Walton D, Rosenbaum K N
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Brain
- Craniosynostoses
- Female
- Fetal Diseases
- Finger Joint
- Humans
- Infant, Newborn
- Marfan Syndrome
- Phenotype
- Pregnancy