1 of 3 DESCRIPTION A 32-year-old primigravida, with low background risk at booking, referred to our fetal medicine department after a missing left lower limb in the fetus was diagnosed on scan at 26 weeks gestation. Hypoplastic left thigh and limb reduction defect were confi rmed ( fi gures 1 and 2 ) using 4D scan, and parents counselled. They remained committed to the pregnancy. Subsequent sca...

Two groups of infants with limb reduction defects were studied: all such infants born in Sweden 1983-1986, and infants with severe reduction deformities born in 1973-1981. Data on the use of oral contraceptives, intrauterine devices, and drugs, and on maternal smoking were retrieved from information collected in early pregnancy as a part of routine maternity health service records. It was not p...

OBJECTIVE The prevalence rate of all types of limb reduction defects in general and those that potentially are caused by vascular disruption in particular is needed to provide a baseline for the evaluation of infants who are exposed in utero to teratogens that cause vascular disruption. The objective of this study was to determine this prevalence rate. METHODS All infants with any limb defici...

We have produced a spectrum of limb defects in developing mouse embryos by exposing the mother to smoke from cigarettes with different nicotine concentrations, ethanol, and a combination of ethanol and cigarette smoke. The critical time of exposure was determined to be during day 10 of gestation (vaginal plug=day 0). This time is prior to the critical events which occur between the apical e...

As part of an ongoing study on all limb reduction defects occurring among 1,213,913 consecutive live births in the province of British Columbia, Canada, during 1952-1984, cases with documented maternal drug exposure and chronic maternal diseases were analyzed separately. This population-based study was made possible through the existence of an ongoing Health Surveillance Registry, which documen...

Nitric oxide synthases are a family of enzymes capable of converting l-arginine to l-citrulline with the subsequent release of nitric oxide (NO). NO has been shown to have multiple biologic effects depending on the isoform responsible for its production and its tissue of origin. Murine endothelial nitric oxide synthase (eNOS) is encoded by Nos3, located on mouse chromosome 5. NO produced from t...

Scalp defects occur as an isolated abnormality or in association with other malformations, and familial cases were first reported by Feud et all in 1945 and Tisserand-Perier2 in 1953. In 1945, Adams and Oliver3 were the first to report the distinct association of scalp defects with distal limb anomalies. Later reports in the mid-1970s by Burton et al4 and Scribanu and Temtamy5 showed that the c...