Multiple pterygium syndrome

09/01/2014 - "Furthermore, this study suggests that failure of periderm formation underlies a series of devastating birth defects, including popliteal pterygium syndrome, cocoon syndrome, and Bartsocas-Papas syndrome. "
02/01/2013 - "Webbing of the neck is a deformity seen in various syndromes, including Turner's, Klippel-Feil, or Escobar-Syndrome. "
09/01/2005 - "Patients with severe spinal deformity secondary to Escobar syndrome can be successfully treated surgically. "
12/01/1992 - "Multiple pterygium syndrome is a rare, inherited disorder manifested by growth retardation, facial or genital anomalies, and widespread musculoskeletal deformities. "
10/01/1990 - "A woman with multiple congenital joint deformities and webbing (multiple pterygium syndrome) is described. "

11/01/2013 - "The aim of this paper is twofold: first, to illustrate that the absence of popliteal webbing is not a sufficient reason to exclude Escobar syndrome in patients with multiple contractures and second, dysmorphic facial features and the presence of certain radiological abnormalities might be considered baseline diagnostic tools in favor of this syndromic entity. "
09/01/2013 - "Multiple pterygium syndrome is characterized by a number of phenotypic features, small stature, webbing of the neck, elbows, and/or knees, and joint contractures. "
01/01/2007 - "Physical therapy intervention for an adolescent with a knee flexion contracture and diagnosis of multiple pterygium syndrome."
09/01/2002 - "Escobar syndrome is a rare condition with autosomal-recessive inheritance, characterised by multiple pterygia, kyphoscoliosis, multiple joint contractures and craniofacial dysmorphisms. "
07/03/1995 - "We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. "

04/01/2015 - "Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. "
08/01/2012 - "Multiple pterygium syndrome (MPS) is a syndrome that is characterized abnormal face, short length and skin pterygiums on some body legions (servical, antecubital, popliteal, interdigital and on neck). "
05/01/2012 - "Anesthetic approach to a patient with multiple pterygium (Escobar) syndrome."
01/13/2012 - "The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital malformations. "
05/01/2002 - "By depicting the popliteal artery and peroneal nerve either in normal positions or abnormally located immediately adjacent to the pterygium, MR imaging provides useful information for preoperative planning in children with popliteal pterygium syndrome. "

11/01/2015 - "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. "
12/01/2014 - "We describe an infant with popliteal pterygia, syngnathia, cleft lip and palate, and retrognathia diagnosed with popliteal pterygium syndrome (PPS). "
06/01/2000 - "The prenatal ultrasound identification of a cleft lip and palate, equinovarus feet with severe lower limb malposition and genital abnormalities led to the prenatal diagnosis of popliteal pterygium syndrome in a pregnant mother suspected to have a mild expression of this autosomal dominant condition. "
02/01/1988 - "A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital anomalies is presented as the Popliteal pterygium syndrome. "
09/01/1984 - "Facio-genito-popliteal syndrome, or popliteal pterygium syndrome, is a very rare anomaly consisting of various combinations of facial deformities (cleft lip/palate, lip pits, syngnathia), popliteal pterygia, and genital deformities. "

01/01/2014 - "Escobar syndrome (ES) or multiple pterygia syndrome (MIM#265000) is an infrequent condition characterized by facial dysmorphism, multiple webbing (pterygia), congenital contractures (arthrogryposis) and other internal anomalies. "
03/01/2012 - "Multiple pterygium syndrome is a clinically and genetically heterogeneous disorder characterized by pterygia of the neck, elbows and/or knees, arthrogryposis, and other phenotypic features such as short stature, genital abnormalities, craniofacial abnormalities, clubfoot, kyphoscoliosis, and cardiac abnormalities. "
03/01/1990 - "The most frequently identified genetic abnormalities in our review were chromosomal disorders (15.7%), alpha-thalassemia (10.3%), skeletal dysplasia (4%), arthrogryposis multiplex syndromes (1.8%), multiple pterygium syndrome (1.5%), and lysosomal storage disorders (1.0%). "
04/01/1951 - "[The pterygium syndrome; status Bonnevie-Ullrich, dystrophia brevicollis congenita, Turner's syndrome and congenital arthromyodysplasia]."
01/01/2008 - "The first disease associations were with nemaline myopathy, but recently other congenital myopathies ('cap disease', congenital fiber type disproportion) and other clinical entities (distal arthrogryposis, multiple pterygium syndrome) have been linked to mutations. "