Popliteal pterygium syndrome: a phenotypic and genetic analysis.
نویسندگان
چکیده
منابع مشابه
Popliteal pterygium syndrome: a phenotypic and genetic analysis.
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesi...
متن کاملPopliteal pterygium syndrome.
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and genitalia. Gorlin et all 2 coined the term 'popliteal pterygium syndrome' on the basis of the most unusual anomaly, the popliteal web. In some publications the names of Fevre and Languepin3 are used as an eponym. A more descriptive term suggested for the condition, on the ...
متن کاملPopliteal Pterygium Syndrome: A Rare Entity
The popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder. We report one family with popliteal pterygium syndrome affecting father and his two daughters, who underwent surgical corrections for multiple congenital malformations.
متن کاملA Case of Popliteal Peterigion (Web) Syndrome
Popliteal peterigion (Web) syndrome, a rare heritable disease of multiple anomalies; characterized by hard sclerotic areas extending from the sole of the feet up to ischiatic tuberosity along the posterior aspect of lower exteremities at the midline. Varients of this syndrome with different severity are reported: severcre of which present in addition to cardinal feature; palpebral adhesions, s...
متن کاملClinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
INTRODUCTION Popliteal pterygium syndrome is a congenital malformation that includes orofacial, musculoskeletal and genitourinary anomalies. It is a rare autosomal dominant disorder due to a mutation of the IRF6 gene on 1q32.2. CASE PRESENTATION A one-month-old Moroccan baby boy was diagnosed with typical features of popliteal pterygium syndrome and carried the c.250C>T; p.Arg84Cys mutation o...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1978
ISSN: 1468-6244
DOI: 10.1136/jmg.15.1.35