Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS). Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology. In addition, a recently ...

BACKGROUND Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure. CASE PRESENTATION We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifest...

Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS). Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology. In addition, a recently ...

Poland's syndrome (PS) is a congenital monolateral deformity that may involve breast, chest wall, and upper limb with different degrees of clinical expressions. In some cases, the problem is mainly cosmetic, and the reconstruction should be performed to achieve minimal scarring and donor site morbidity. The authors describe a case report of a male patient with PS who developed a severe capsular...

INTRODUCTION  The Pancoast syndrome (PS) has been termed after Henry Pancoast. Its neurologic core symptoms include pain, radicular sensory and motor syndromes, and Horner syndrome. A PS is often the presenting sign of lung cancer and bears a grim prognosis. METHODS  This case report describes an atypical onset of a lung tumor causing a PS. Electrophysiological examination was not conclusive....

The most common syndromic form of hereditary SNHL, Pendred syndrome (PS) was described by Pendred in 1896. The condition is autosomal recessive, and affected individuals also have goiter. The prevalence of PS is estimated at 7.5 to 10 per 100,000 individuals, suggesting that the syndrome may account for 10% of hereditary deafness. The hearing loss is usually congenital and severe to profound, a...

Proteus Syndrome (PS) is a rare genetic disease that causes asymmetric, disproportionate overgrowth of tissues, particularly bone. PS is caused by a de novo somatic mutation in the AKT1 gene [1]. This single mutation in AKT1, c.49G→A, p.Glu17Lys, causes constitutive activation of the AKT1 protein which underlies the tissue overgrowth and tumor susceptibility in patients with PS [1]. The de novo...