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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Bibliographic Details
Published in:Journal of medical genetics 2000-09, Vol.37 (9), p.719-721
Main Authors: TERHAL, P A, AUSEMS, M G E M, VAN BEVER, Y, TEN KATE, L P, DIJKSTRA, P F, KUIJPERS, G M C
Format: Article
Language:English
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
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Description
Summary: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).
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.9.719