Multiple Pterygium Syndrome

Two patients who applied to our Genetics Unit with multiple congenital anomalies were examined for pedigree and cytogenetical analyses. The patients were diagnosed as Multiple Pterygium Syndrome(MPS) and medical genetic counselling was given to the patients families.

[1]  D. Seelow,et al.  Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. , 2008, American journal of human genetics.

[2]  Colin A. Johnson,et al.  Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. , 2006, American journal of human genetics.

[3]  P. Robinson,et al.  Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. , 2006, American journal of human genetics.

[4]  D. David,et al.  Spectrum of features in pterygium syndrome. , 2006, Asian journal of surgery.

[5]  L. Brueton,et al.  Diversity of Neuromuscular Pathology in Lethal Multiple Pterygium Syndrome , 2003, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[6]  A. Teebi,et al.  Multiple pterygium syndrome: a relatively common disorder among Arabs. , 1990, Journal of medical genetics.

[7]  M. Pembrey,et al.  Multiple pterygium syndrome: evolution of the phenotype. , 1987, Journal of Medical Genetics.

[8]  J. B. Hill,et al.  Lethal multiple pterygium syndrome: three consecutive cases in one family. , 1986, American journal of medical genetics.

[9]  J. Hall,et al.  The lethal multiple pterygium syndromes. , 1984, American journal of medical genetics.

[10]  Y. Englert,et al.  Lethal multiple pterygium syndrome. , 1984, American journal of medical genetics.

[11]  J. Pryse-Davis,et al.  Pterygium syndrome. , 1976, Journal of medical genetics.