Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0036439|scoliosis
Sentences 5
PubMedID- 22198646 She is now 25 years old, and is absolutely free of neurological symptoms, except for short stature with scoliosis, presumably a sign of axd [9].
PubMedID- 26090680 Spondylocostal dysostosis is characterized by multiple vertebral segmentation defects; patients exhibit short trunk dwarfism with nonprogressive mild scoliosis [6].
PubMedID- 24677493 The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly.
PubMedID- 23307567 In addition, the patients exhibited mild-to-moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, and cerebellar and renal hypoplasia.
PubMedID- 25594860 At 4.6 years of age, he underwent detailed review by a clinical geneticist, documenting disproportionate growth and short stature with scoliosis, consistent with the phenotypic features of semd.

Page: 1