Cohen B, Temple I K, Symons J C, Hall C M, Shaw D G, Bhamra M, Jackson A M, Pembrey M E
Department of Orthopaedics, University College Hospital, London.
J Med Genet. 1991 Nov;28(11):786-90. doi: 10.1136/jmg.28.11.786.
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.
两名女性同胞被描述为患有双侧小耳畸形、髌骨缺如、身材矮小、体重增加缓慢以及具有特征性面部特征。其他骨骼异常包括肘关节习惯性完全脱位、肋骨和长骨细长、肩胛盂异常塑形伴钩状锁骨以及手指弯曲。骨龄明显延迟，骨骺扁平。这种不寻常的特征组合与赫斯特等人描述的综合征有许多相似之处。
