Department of Pediatrics, S. P. Medical College and Associated group of Hospitals, Bikaner, Rajasthan, India.
Indian J Pediatr. 2012 Nov;79(11):1517-9. doi: 10.1007/s12098-011-0650-3. Epub 2012 Mar 1.
The Caudal dysplasia syndrome (CDS) and the femoral hypoplasia-unusual facies syndrome (FHUFS) have been reported to be more frequent among infants of diabetic mothers (IDMs). Infact, uncontrolled maternal diabetes is the most common cause of both the syndromes. Till now, there is no case report to suggest absent radius as a manifestation of IDMs. The authors report a rare case of newborn, who presented with features compatible with both CDS and FHUFS with an additional feature of absent radius, which is not reported in the literature so far. The possibility that all these features represent different manifestations of the same disorder is discussed here.
尾部发育不良综合征 (CDS) 和股骨发育不良-特殊面容综合征 (FHUFS) 已被报道在糖尿病母亲的婴儿 (IDM) 中更为常见。事实上,未控制的母体糖尿病是这两种综合征最常见的原因。到目前为止,还没有病例报告提示桡骨缺失是 IDM 的表现。作者报告了一例罕见的新生儿病例,其表现同时符合 CDS 和 FHUFS,并有桡骨缺失的额外特征,这在文献中尚未报道。在这里讨论了所有这些特征是否代表同一疾病的不同表现的可能性。