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Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
In 1994, published reports of the disorder were reviewed by Boles et al. 1 To date, over 17 patients have been described. 1-5 Inheritance is autosomal recessive as evidenced by an almost equal number of male and female patients, as well as affected sibs, occurrence of consanguineous matings, and the...
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| Published in: | Journal of medical genetics 2000-09, Vol.37 (9), p.719-721 |
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| container_end_page | 721 |
| container_issue | 9 |
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| container_title | Journal of medical genetics |
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| creator | TERHAL, P A AUSEMS, M G E M VAN BEVER, Y TEN KATE, L P DIJKSTRA, P F KUIJPERS, G M C |
| description | In 1994, published reports of the disorder were reviewed by Boles et al. 1 To date, over 17 patients have been described. 1-5 Inheritance is autosomal recessive as evidenced by an almost equal number of male and female patients, as well as affected sibs, occurrence of consanguineous matings, and the absence of clinical abnormalities in the parents. Most other patients were reported to have proportionate short stature. 1 4 However, details about arm span, sitting height, or subischial leg length are not available except for two patients described by Cohen et al. 6 In 1994, Lacombe et al 3 postulated that the EPS syndrome could be the human equivalent of the short-earmurine disorder resulting from mutations in the bone morphogenetic protein 5 gene (BMP-5). |
| doi_str_mv | 10.1136/jmg.37.9.719 |
| format | article |
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| ispartof | Journal of medical genetics, 2000-09, Vol.37 (9), p.719-721 |
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| language | eng |
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| subjects | Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Adolescent Age Breast - abnormalities Breasts Ear - abnormalities Ears & hearing Expansion Female Females Genotype & phenotype Growth Disorders - pathology Humans Letters to the Editor Patella - abnormalities Patients Phenotype Syndrome |
| title | Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? |
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