Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype
| Autor: | Anthony M. Vandersteen, Joanne W. Dixon |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Adolescent Cutis marmorata telangiectatica congenita Limb Deformities Congenital Biology Pathology and Forensic Medicine Young Adult Fatal Outcome Ectodermal Dysplasia medicine Humans Child Genetics (clinical) Genes Dominant Genetics Prominent scalp veins General Medicine Anatomy medicine.disease Phenotype Scalp Dermatoses Severe phenotype Child Preschool Pediatrics Perinatology and Child Health Disease Progression Female Dominant inheritance Adams–Oliver syndrome |
| Zdroj: | Clinical dysmorphology. 20(4) |
| ISSN: | 1473-5717 |
| Popis: | List of key featuresScalp defectsAbsent finger tipsCutis marmorata telangiectatica congenitaPulmonary hypertensionNeuronal migration abnormalityDominant inheritanceIntroductionWe present the case of a 24-year-old woman with congenital prominent scalp veins, cutis marmorata telangiectatica congenita |
| Databáze: | OpenAIRE |
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