Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatment with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.

The effects of change in pharyngeal airway pressure on electromyographic (EMG) activity of a pharyngeal dilating muscle (genioglossus) were investigated in 20 anesthetized rabbits. In vagotomized animals, upper airway loading maneuvers (nasal occlusion) increased the peak inspiratory activity of the genioglossus (GG) muscle on the first occluded breath. In contrast, "unloading" maneuvers (switching from nose to tracheostomy breathing) decreased GG activity. To further characterize the GG response, sustained pressure changes were produced within the isolated upper airway. Negative pressure increased GG activity; positive pressure decreased it. A poststimulus effect consisting of increased GG activity compared with control was seen following both negative- and positive-pressure stimuli. Cyclical pressure changes applied to the isolated upper airway increased the GG activity. These observations indicate the presence of reflex pathways that regulate GG muscle activity in response to upper airway pressure loads. This reflex system appears to play a role in regulating GG activity during tidal breathing and could be important in ensuring pharyngeal airway patency.

Spontaneous nonfeeding swallows taken during wakefulness and sleep were identified in nine preterm infants by characteristic patterns in pharyngeal pressure, submental electromyogram, and respiratory airflow. Two hundred and seventeen swallows during ongoing respiration interrupted either inspiratory or expiratory airflow with airway closure for approximately 1 s. The duration of airway closure was independent of respiratory rate. A brief "swallow-breath" was associated with swallow onset in most instances. The respiratory nature of this movement was confirmed by simultaneous recording of a fall in pharyngeal or esophageal pressure and outward movement of the abdomen. Prolongation of the respiratory cycle was generally observed when a swallow interrupted ventilation at higher lung volumes, i.e., in late inspiration or early expiration. When the swallow interrupted ventilation at lower lung volume, i.e, in late expiration or early inspiration, the subsequent inspiratory effort was usually obstructed as it preceded airway opening at the end of the swallow synergism.

The afferent pathway of an upper airway reflex in which genioglossus muscle electromyographic (GG EMG) activity is influenced by pharyngeal pressure changes was investigated in 20 anesthetized rabbits. We took advantage of the fact that the upper airway was separated into two compartments by pharyngeal closure occurring when the animals breathe through a tracheostomy. This allowed pressure to be delivered selectively either to the nose and nasopharynx or to the larynx and hypopharynx. Midcervical vagotomy did not eliminate the GG EMG response to pressure stimuli. On the other hand high cervical vagotomy or superior laryngeal nerve section eliminated the response in the laryngeal compartment, but not in the nasopharyngeal compartment. Topical anesthesia of the mucosa of the nose, pharynx, and larynx abolished the response in both compartments. Therefore we conclude that more than one afferent pathway exists for this upper airway pressure reflex; the primary afferent pathway from the laryngeal compartment is the superior laryngeal branch of the vagus nerve, whereas the primary afferent pathway for the nasopharynx is nonvagal. Trigeminal nerve, glossopharyngeal nerve, and/or nervus intermedius carry nonvagal afferents from the nasopharynx and nose. The topical anesthetic and nerve section studies suggest that superficial receptors mediate this response. The occurrence of swallowing in response to upper airway pressure changes and its elimination by topical anesthesia or superior mechanoreceptors may mediate both genioglossus respiratory responses and swallowing responses.

We have determined the influence of transmural pressure and neck posture on upper airway patency in infants after death. In natural resting postures, the airway was closed at transmural pressures not exceeding those normally seen during peak inspiratory airflow in the living infant, implying that a neuromuscular mechanism is necessary to maintain airway patency during life. Neck flexion raised closing pressure, making the airway more susceptible to collapse, whereas neck extension lowered closing pressure, making the airway more resistant to collapse. When the angle of flexion was kept constant, closing pressure was not significantly altered by turning the head or positioning the infant prone. Pressures above the corresponding closing pressure were required to reopen the closed airway, suggesting that the walls of the closed airway tended to adhere and implying that surface forces can impose an added load to airway-maintaining musculature during obstructive apnea in the living infant.