Disease: Brachydactyly small stature face anomalies
- A syndrome characterized by contractures and pterygia of upper body associated with umbilical hernia, short stature, and distinctive face in an Arabic family
- Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males
- Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
- Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation
- Novel X-linked mental retardation syndrome with short stature maps to Xq24
- Phenotype and genotype in Nicolaides-Baraitser syndrome
- Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome?
- Pseudoaminopterin syndrome: clinical report with new characteristics
- SED-brachydactyly and distinctive speech: report of two new cases
- Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis
- Type 1 diabetes in a patient with Ellis-van Creveld syndrome
- What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis