Cutis laxa and the Costello syndrome.

نویسندگان

  • M A Patton
  • M Baraitser
چکیده

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منابع مشابه

Costello syndrome: natural history and differential diagnosis of cutis laxa.

Costello syndrome is emerging as a better delineated condition and should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. We present a further case of Costello syndrome which illustrates the natural history of this condition.

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An Iranian family with cutis laxa and classic Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a heterogenous group of inherited disorders of connective tissue characterized by fragility of the skin and blood vessels, hyperextensibility of the skin and joint hypermobility. Cutis laxa is characteized clinically by lax, pendulous skin and histologically by loss of elastic tissue in the dermis. There are some reports of coexistence of cutis laxa with ot...

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Anesthetic management of Costello syndrome: a case report.

Costello syndrome is a rare genetic disorder with an estimated 300 medical cases worldwide. Typical features that characterize this syndrome include short stature, macrocephaly, developmental delay, loose skin folds, distinctive coarse facial features, and multiorgan system anomalies. The following case report discusses the anesthetic management for a 3-year-old boy undergoing general anesthesi...

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PRESENTATION OF A PEDIGREE OF AN IRANIAN FAMILY WITH TWO MEMBERS WITH CUTIS LAXA AUTOSOMA LRECESSIVE TYPE I

Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their ...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 30 7  شماره 

صفحات  -

تاریخ انتشار 1993