Microtia and short stature: a new syndrome. Issue 11 (November 1991)

• Record Type: Journal Article
• Authors: Cohen, B; Temple, I K; Symons, J C; Hall, C M; Shaw, D G; Bhamra, M; Jackson, A M; Pembrey, M E
• Is Part Of: Journal of medical genetics. Volume 28:Issue 11(1991)
• Page Start: 786
• Page End: 790
• Publication Date: 1991-11
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.28.11.786
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et al.