Genitourinary anomalies are a component manifestation in the ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome
| Autor: | B. R. Rollnick, J. J. Hoo, John M. Optiz, James F. Reynolds |
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| Rok vydání: | 1988 |
| Předmět: |
Male
medicine.medical_specialty Ectodermal dysplasia Ectrodactyly Cleft Lip Urinary system Population Fingers Variable Expression Ectodermal Dysplasia medicine Humans Abnormalities Multiple First-degree relatives Craniofacial education Genetics (clinical) Genes Dominant education.field_of_study Genitourinary system business.industry Syndrome Anatomy medicine.disease Dermatology Cleft Palate stomatognathic diseases Urogenital Abnormalities Female business |
| Zdroj: | American Journal of Medical Genetics. 29:131-136 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320290116 |
| Popis: | Here we report on 13 individuals with the EEC syndrome from a single craniofacial clinic population. Eight of 13 underwent genitourinary (GU) evaluation; all had abnormal findings. Seven had anomalies of the urinary tract, and 3 had genital anomalies. To our knowledge, this is the first report of GU evaluation of the majority of EEC patients from a single clinic population. Results support the suggestion that GU anomalies are a major component of the EEC syndrome. Genitourinary evaluation of all EEC patients and their first degree relatives seems indicated. The abnormal findings observed to date suggest variable expression of an autosomal dominant gene. |
| Databáze: | OpenAIRE |
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