Two cases of thanatophoric dwarfism are presented. At external physical examination this anomaly is not readily distinguishable from achondroplasia and other forms of congenital disproportionate dwarfism. Radiologically, however, characteristic skeletal changes are demonstrable. The diagnosis can be made in utero. The clinical course is invariably fatal. The hereditary aspects, of importance for genetic counseling of parents, are still unexplained. The patients discussed show the typical thanatophoric skeletal changes in combination with a form of synostosis, i.e. bilateral radioulnar synostosis in one case, and synostosis of the coronal sutures and the lambdoid suture in the other. Emphasis is placed on the importance of radiological examination in cases of unexplained hydramnion and perinatal death.

Dwarfism↗

PubMedDate not supplied

Ultrasound diagnosis of gastroesophageal reflux and hiatal hernia in infants and young children.

In 30 young children suspected of gastroesophageal reflux (GER), the G-E junction was examined with ultrasonography directly after a feeding while these children were on overnight extended esophageal pH monitoring (EEpHM) (32 simultaneous ultrasound/EEpHM studies). The two tests showed 81% to 84% agreement in the detection of the presence or absence of GER, depending on whether the whole period of EEpHM or only the part of it covering the ultrasound observation period were used as the standard. The discrepancies between the two tests were explained by the much longer monitoring period of EEpHM compared to ultrasonography and the inability of EEpHM to show reflux of neutralized gastric contents directly after milk feedings. The two studies probably measure different aspects of clinically significant reflux and must be correlated with the clinical symptoms. Morphological findings associated with significant reflux were (1) a short intra-abdominal part of the esophagus, (2) a rounded gastroesophageal angle, and (3) a "beak" at the gastroesophageal junction. Barium meal findings confirmed these sonographic signs, indicating a sliding hiatal hernia of the distal esophagus, either fixed or intermittent. Ultrasonography can be recommended as a useful and physiological screening test to demonstrate clinically significant GER and a predisposing hiatal hernia of the esophagus in symptomatic children.

Child↗