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[Differential diagnosis and therapy of abnormalities of the respiratory tract].

Congenital disorders of respiration, food intake and function of the voice indicate abnormalities in the rhinolaryngotracheal or oesophageal regions of the air passages and oesophagus. They immediately need differential diagnostic clarification in interdisciplinary cooperation. Methods of a sophisticated tubus endoscopy, applied also under emergency situations, play a vital role. The therapy aims at eliminating life-threatening ventilation disorders within a short time by pharyngotracheal intubation and within a longer period by tracheostomy in order to let prenatally inhibited developments postnatally come into effect, if need be to support these differentiation processes by endoscopic interventions or to perform plastically constructive operations at a prognostically convenient time.

Abnormalities, Multiple↗

Lung involvement in the multisystem syndrome CHARGE association.

The CHARGE association is a multisystem syndrome, with a wide range of phenotypic expression, causing mortality, especially in childhood. We performed a hospital audit, in order to quantify the pulmonary implications, in 28 boys and 19 girls aged 0.02-23 yrs, with a definite diagnosis of CHARGE. A review of the records of these children with CHARGE association revealed that aspiration was common during infancy, as a result of inco-ordination of swallowing and gastro-oesophageal reflux. Aspiration was suspected in 22 of the 47 cases (47%), recurrent chest infections occurred in 22 cases (47%), and lung involvement contributed to 7 out of 17 deaths (41%). We conclude that respiratory morbidity and mortality is common in CHARGE, and decreases with age. Early diagnosis and treatment affords the best prognosis.

Abnormalities, Multiple↗

Congenital high airway obstruction syndrome and airway reconstruction: an evolving paradigm.

OBJECTIVES: To refine the classic definition of, and provide a working definition for, congenital high airway obstruction syndrome (CHAOS) and to discuss the various aspects of long-term airway reconstruction, including the range of laryngeal anomalies and the various techniques for reconstruction. DESIGN: Retrospective chart review. PATIENTS: Four children (age range, 2-8 years) with CHAOS who presented to a single tertiary care children's hospital for pediatric airway reconstruction between 1995 and 2000. CONCLUSIONS: To date, CHAOS remains poorly described in the otolaryngologic literature. We propose the following working definition for pediatric cases of CHAOS: any neonate who needs a surgical airway within 1 hour of birth owing to high upper airway (ie, glottic, subglottic, or upper tracheal) obstruction and who cannot be tracheally intubated other than through a persistent tracheoesophageal fistula. Therefore, CHAOS has 3 possible presentations: (1) complete laryngeal atresia without an esophageal fistula, (2) complete laryngeal atresia with a tracheoesophageal fistula, and (3) near-complete high upper airway obstruction. Management of the airway, particularly in regard to long-term reconstruction, in children with CHAOS is complex and challenging.

Abnormalities, Multiple↗

Type I posterior laryngeal clefts.

Posterior laryngeal clefts (PLCs) are described in the literature as rare laryngeal abnormalities. The authors believe type I clefts are much more common than previously reported. In two busy pediatric tertiary care centers, such clefts are the second most common congenital laryngeal finding at rigid endoscopy, second only to laryngomalacia. PLCs frequently present with symptomatology that can be attributed to other common disease processes and are often undiagnosed unless the surgeon maintains a high index of suspicion and specifically examines the posterior glottis by palpation during microlaryngoscopy. This report presents a series of 41 patients with type I PLCs, reviews their subtle and often confusing presenting signs and symptoms, and describes a simple yet reliable method of diagnosis.

Abnormalities, Multiple↗

LARYNGEAL ATRESIA.

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Congenital Abnormalities↗

Anaesthetic considerations in a patient with Fraser syndrome.

A 16-year-old girl with Fraser syndrome underwent abdominal hysterectomy under general anaesthesia. She had multiple congenital anomalies which included a cardiac defect and airway abnormalities. Intubation difficulties were circumvented by the retrograde technique of placement of the tracheal tube.

Abnormalities, Multiple↗

Trisomy 19 q.

Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.

Abnormalities, Multiple↗

LOWER ACCESSORY LUNG.

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Congenital Abnormalities↗

Marshall-Smith syndrome: two case reports and a review of pulmonary manifestations.

Two patients with the Marshall-Smith syndrome are described. Both had significant and fatal respiratory distress attributable to this condition. Congenital, functional, and acquired abnormalities of the respiratory tract are described in nine of the 11 case reports in the literature and are characteristic of this syndrome as well as a primary cause of failure to thrive and death in these patients. Unusual immunologic findings in one of our two patients are the first to be reported in the Marshall-Smith syndrome. Quantitation of immune function in other patients with this condition will be helpful in determining the significance of these results. It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced bone age, and chronic respiratory symptomatology.

Abnormalities, Multiple↗

Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.

UNLABELLED: We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After front-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. CONCLUSION: MOPD type II may have a wider range of expression than previously delineated.

Abnormalities, Multiple↗