Neonatal hypoglycemia associated with umbilical artery catheter positioned at the eighth to ninth thoracic vertebrae

Previous reports of neonatal hypoglycemia have been associated with malpositioned umbilical cord artery catheters. Neonatal hypoglycemia in association with normally positioned umbilical artery catheter and responsive to catheter repositioning is reported for the first time.     

Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum

A 27-year-old female is described with Klippel-Feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. Other anomalies occurring with Klippel-Feil syndrome are discussed.     

Kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient

A 27-year-old female is described with Kallman syndrome and Klippel-Feil anomaly. This is thought to be the first report of the coexistence of these two conditions in the same patient.     

Focal dermal hypoplasia associated with split sternum--Goltz syndrome

Focal dermal hypoplasia (Goltz syndrome) is an unusual congenital mesoectodermal syndrome. We report on a baby girl with multiple malformations, including focal dermal hypoplasia, characteristic facial features, skeletal anomalies and split sternum.     

Fetal anemia,cerebellar hemorrhage and hypoplasia associated with congenital Parvovirus infection

We report a case of fetal cerebellar hemorrhage and hypoplasia, identified by fetal MRI after intrauterine blood transfusion at 21 weeks’ gestation for treatment of severe anemia due to congenital Parvovirus infection. Postnatal MRI confirmed atrophy of bilateral cerebellar hemispheres and inferior vermis. Cerebellar capillaries may be extremely susceptible to hemodynamic changes in the setting of intrauterine blood transfusion due to severe anemia. Although the correlation between fetal intracranial anomalies and Parvovirus infection remains unclear, in this population, a detailed evaluation of the brain parenchyma should be considered prior to and after intrauterine blood transfusion.     

Ultrasonic ratio of fetal thoracic to abdominal circumference: an association with fetal pulmonary hypoplasia

Real time ultrasound was used in pregnant women who were considered to be at risk for development of pulmonary hypoplasia (n = 26). The population consisted of women who had either premature rupture of membranes (n = 16) or oligohydramnios (n = 10). The ratio calculated by comparing the fetal thoracic circumference to abdominal circumference was obtained in all cases within 10 days of delivery. This ratio correlated strongly with neonatal outcome. Multivariate regression models of neonatal outcome were developed to analyze the relationship of gestational age at which premature membrane rupture occurred, the duration of premature rupture, date of birth, and prenatal diagnosis. The addition of the thoracic circumference to the abdominal circumference ratio increased significantly the proportion of explained variability. Application of this ratio should be considered in evaluating fetal status in oligohydramnios and in the expectant management of premature rupture of membranes.     

Advanced abdominal pregnancy associated with fetal pulmonary hypoplasia: report of a case

Delaying delivery of a premature abdominal pregnancy may allow for fetal pulmonary maturation. Prolonged extreme oligohydramnios, however, resulting in significant pulmonary hypoplasia would frustrate any effort to wait for pulmonary maturation. Little mention of this complication is found in the literature. Therefore, two cases of abdominal pregnancy are presented, one with fetal pulmonary hypoplasia and one without. Assessing the volume of amniotic fluid is suggested when a decision is being made to deliver this type of pregnancy.     

Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient

We report a 13-year-old boy with an apparently previously undescribed combination of findings including facial features of frontonasal dysplasia, Poland anomaly, and contralateral hypoplasia of the lower limb. Clinical correlations among these features are discussed.     

A case report of polysplenia syndrome associated with genital tract duplication anomaly

Polysplenia syndrome is a condition that persists as a defect of lateralisation, the embryonic process by which the site of body organs is determined. The most frequent manifestations of this syndrome, in addition to polysplenia are complex cardiac malformations, situs inversus, and bilobed lungs. Laterality defects have been known to be due to autosomal recessive inheritance. We report a unique case of polysplenia syndrome in association with genital tract duplication anomaly.     

Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease.

We describe two children with diagnostic features of Jeune syndrome who also had Hirschsprung disease. An association between the two conditions has not previously been described and has implications both for clinical management and for further study.     

Müllerian dysgenesis associated with a chromosomal anomaly and mental retardation. A case report

A 26-year-old woman with mental retardation and a known chromosomal anomaly (46XX[13 p+]) was found to have müllerian agenesis. This is the first reported case of a müllerian anomaly and an autosomal chromosomal abnormality.