Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

• Published in: Journal of medical genetics Vol. 37; no. 9; pp. 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: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.09.2000; BMJ Publishing Group LTD; BMJ Group
• 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
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.37.9.719

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).