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Results for “ECTODERMAL DEFECT, CONGENITAL”

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At least 55 records · Page 3Linked to original sources
PubMed2001

First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive condition characterized by short-limb dwarfism, postaxial polydactyly, ectodermal defects, and congenital heart disease. This condition is most prevalent in the Amish population of Lancaster, Pennsylvania, USA, occurring in 1/5000 births and in 1/60,000 births in the general population. This report presents a case of ultrasonographic detection of chondroectodermal dysplasia at 12 weeks of gestation.

Adult↗
PubMedDate not supplied

Rubinstein--Taybi syndrome and ulerythema ophryogenes in a 9-year-old boy.

Rubinstein-Taybi syndrome is characterized by the presence of a peculiar facies, mental retardation, and broad thumbs and great toes. Several associated cutaneous abnormalities have been reported with this syndrome. Ulerythema ophryogenes is a form of follicular keratosis associated occasionally with other ectodermal defects and congenital anomalies. We describe a 9-year-old child with Rubinstein-Taybi syndrome and ulerythema ophryogenes. This association has not been described previously to our knowledge.

Child↗
PubMed1984

Anaesthesia and severe skin disease.

A review of the anaesthetic management of severe skin disease is presented. Erythroderma, urticaria pigmentosa, hereditary angioedema, epidermolysis bullosa, pemphigus, pemphigoid, the Stevens-Johnson syndrome, Behcet's syndrome, scleroderma, Ehlers-Danlos syndrome and congenital anhidrotic ectodermal defect are discussed.

Adult↗