Freeman-Sheldon syndrome: a case report

The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia, in which fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. Limbs may be encased in plaster casts or splints limiting the available sites for venepuncture. The authors report with a review of literature the case of an infant with Freeman-Sheldon syndrome, which his characteristics was mentioned above

Pfeiffer type 1 syndrome: a genetically proven case report

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population. At the best of our knowledge this is the first genetically proven case report from Iran. The authors report with a review of literature, the case of a infant with Pfeiffer syndrome, manifested by Lacunar skull, ventriculomegaly, bicoronal craniosynostosis, frontal bossing, shallow orbits, parrot-like nose, umbilical hernia, broad and medially deviated great toes