Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating.

The major diagnostic features of Ellis van Creveld syndrome (EvC) includes disproportionate short stature, polydactyly, ectodermal anomalies, and structural heart defects. We describe three siblings with EvC of a non-consanguineous mating. The history of these siblings well illustrate the clinical manifestations and complications that children with EvC encounter. All three girls had short stature, narrow rib cage, polydactyly and nail hypoplasia. The first daughter died in early infancy in respiratory failure. The second daughter underwent open heart surgery for atrial septal defect repair. The third daughter, diagnosed in utero with fetal ultrasonography, currently is scheduled for surgical excision of extra-digits and extraction of neonatal teeth. Infant mortality rates among patients with EvC is strikingly high due primarily to cardiorespiratory failure. If they survive infancy morbidity is significant. The gene effected in individuals with EvC has recently been identified on the short arm of chromosome 4. Future testing for gene mutations may provide valuable information for premarital counseling and prenatal diagnosis. Three offspring with disproportionate short stature, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for Ellis van Creveld syndrome.

Congenital diaphragmatic hernia: atypical presentation.

We report an unusual case of the left sided diaphragmatic hernia in which the left lobe of the liver blocked the herniation of the intestinal contents into the chest and the clinical symptoms were not apparent at birth. The patient was a full term infant born to a mother whose antenatal care included apparently normal sonographic evaluation. She developed increasing tachypnea within two hours period after birth. Auscultation of the chest revealed bilateral normal aeration. No cardiac murmurs were heard. An X-ray of the chest revealed a left sided haziness without any mediastinal shift. Progressive decrease in the breath sounds was noted over the left base. A CT examination demonstrated a left sided diaphragmatic hernia, with herniation of the left lobe of the liver causing compression of the lung. No loops of the bowel were observed in the thoracic cavity. She underwent laparotomy and repair of diaphragmatic hernia. This case history illustrates that large left sided diaphragmatic hernias may be missed on antenatal sonogram and may not present with clinical signs until several hours after birth. Both physical examination and routine chest X-ray may prove inconclusive and a CT scan is necessary to make a definitive diagnosis.

Peripheral circulatory response to feeding in newborn low-birth-weight infants.

The effect of feeding on calf blood flow (CBF) was investigated in 27 preterm and 10 term small-for-gestational-age (SGA) neonates using the venous occlusion plethysmographic method pre- and postprandially. Blood pressure and heart rate were simultaneously monitored. Feeding consisted of commercially prepared formula with average amounts of 20 ml/kg for preterm and 30 ml/kg for term SGA infants. As a group, the preterm neonates showed no significant CBF changes 1/2 h postprandially from the control value of 8.4 +/- 2.6 ml/min/100 ml (mean +/- SD). Although the difference was not statistically significant, 10 of the 27 preterm infants showed a mean CBF decrease of 9% and 17 showed no change to a slight increase immediately postprandially. These changes were followed by a 35% mean increment in CBF of all preterm infants at 2-2 1/2 h postprandially. CBF decreased in term SGA infants by 40% at 1/2 h postprandially from a control flow of 8.6 +/- 2.9 ml/min/100 ml (p less than 0.01). CBF returned to the control level 1-1 1/2 h postprandially and superseded the control value by 16% at 2-2 1/2 h. Peripheral vascular resistance varied inversely with CBF. Blood pressure and heart rate showed no significant changes. These observations indicated that unlike term infants, most preterm infants manifest no significant immediate peripheral vascular response to feeding before the onset of a hyperdynamic circulatory state. This difference was related to gestational age rather than to birth weight as term SGA infants responded like term appropriate-for-gestational-age infants. The possible mechanisms involved in these CBF changes with feeding are discussed.