We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint ...
U. Escobar et al. Popliteal pterygium syndrome J. Med. Genet. (1978) I. Gassner et al. Familial occurrence of syngnathia syndrome Clin. Genet. (1979) R.J. Gorlin et al. Popliteal pterygium syndrome Pediatrics (1968) J. Hall et al. Limb pterygium syndromes — a review and report of ...
The first scientific reports of this syndrome date back to the latter part of the nineteenth century in cases described by Trelat (1869) and Wolff (1889) (Hansson et al. 1976), but the name “popliteal pterygium syndrome” was suggested by Gorlin et al. in 1968 (Gorlin et al. 1968). ...
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...
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...
It is also known as pterygum colli syndrome, Escobar syndrome or pterygium syndrome. This case report describes an infant with MPS born as a twin with a 28-week-gestational period to an in vitro fertilized mother after 19 years of infertility period. All over the world, approximately 3 ...
Escobar syndromemultiple pterygium syndromewhole‐body MRIMutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long‐term follow‐up of seven patients with CHRNG ‐related nonlethal MPS and we compare them with the 57 previously published patients...
Background Germline mutations in the CHRNG gene that encodes the 纬 subunit of the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) or the lethal form (LMPS) of multiple pterygium syndrome (MPS). In addition CHRNG mutations and mutations in other components of ...
We report a two years old Egyptian girl, the first birth of consanguineous marriage with clinical findings consistent with the diagnosis of the autosomal recessive multiple pterygium syndrome (Escobar) (growth retardation, craniofacial dysmorphism, multiple pterygia, kyphoscoliosis, multiple joint ...