Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of
The second major type of multiple pterygium syndrome (MPS) is the milder, nonlethal Escobar variant (EVMPS [MIM 265000]). This is also characterized by multiple pterygia, arthrogryposis, facial dysmorphism, short stature, vertebral fusion, and other internal anomalies and is usually transmitted as...
Escobar syndrome also known as non lethal type of multiple pterygiumsyndrome, is characterised by webbing (pterygium) of neck, axilla and extremities, fixed contracture of multiple joints (arthogryposis) and with normal intelligence.Pterygium syndromes are heterogenous group of disorders with sporadic, ...
multiple pterygium syndrome type EscobarpterygiumwebbingWe 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. The striking finding was severe ...
multiple pterygium syndromeEscobar syndrome (nonlethal type of multiple pterygium syndrome) is a very rare genetic disorder. The central manifestations of Escobar syndrome are the presence of multiple pterygia, fixed joint contractures, and characteristic facies. Here, we report a case of Escobar ...
The webbing of the neck and depressed areas (fossae) under the elbow, and other joints and hypogonadism in males, small labia and clitoris in females and other anomalies. hypogonadism, clitoris, poplidoi:10.1007/978-1-4020-6754-9_13793George P. RédeiSpringer Netherlands...
Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related Escobar variant of multiple pterygium syndrome and ...
Multiple pterygium syndrome, Escobar variant (MPSEV) is a rare congenital condition, which is inherited with an autosomal recessive pattern. It has an unknown incidence but is more common among children from consanguineous relationships. It is caused by a mutation in the CHRNG gene on chromosome ...
Escobar syndrome (multiple pterygium syndrome, Multiple pterygium syndromes, OMIM 265 000) is an orphanic hereditary disease, the incidence is unknown. Clinical manifestations -- cervical, antecubital, popliteal pterygiums, multiple contractures of joints, excessive skin folds i...