Wang Raymond, Martínez-Frías Maria Luísa, Graham John M
Medical Genetics-Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.
J Pediatr. 2002 Nov;141(5):611-7. doi: 10.1067/mpd.2002.128891.
To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS).
Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in Spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals.
Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85).
Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration.
确定糖尿病母亲的婴儿（IDM）发生耳部发育异常和眼耳脊椎综合征（OAVS）的风险是否增加。
将在雪松西奈医疗中心就诊的患有耳部发育异常的IDM病例与医学文献中描述类似患者的病例系列相结合。分析了西班牙一个大型先天性出生缺陷登记处的数据，并计算了妊娠期或孕前糖尿病母亲所生婴儿患所研究畸形之一的比值比（OR）及95%置信区间。
在该病例系列的30例患者中，50.0%（15例）患有半侧颜面短小畸形；46.7%（14例）有听力损失；33.3%（10例）有面神经麻痹；33.3%（10例）有脊柱异常；36.7%（11例）有心血管缺陷，其中45%（5例）为圆锥动脉干畸形；26.7%（8例）有肾脏异常；13.3%（4例）有肢体缺陷（均为桡骨射线发育不全）；10%（3例）有DiGeorge综合征；6.7%（2例）有左右侧缺陷；6.7%（2例）有无肛畸形。在出生缺陷登记处的病例中，妊娠期糖尿病母亲所生婴儿患OAVS的比值比为2.28（95%CI，1.03 - 4.82，P = 0.03），这些婴儿耳部异常的OR为1.21（95%CI，0.
