The Antley-Bixler syndrome (ABS) is characterized by craniosynostosis, radiohumeral synostosis, and femoral bowing. Other findings include a trapezoid-shaped head, deformed ears, severe midface hypoplasia, choanal atresia or stenosis, and long bone fractures. Most ABS cases have died in the first months of life from respiratory complications. The poor prognosis in this condition makes counseling difficult and early termination of pregnancy a consideration. The medical and surgical management information presented here can be used as a guide for counseling parents in the future. We report on a new patient with ABS who now at age 3 yr, has been followed by the medical staff of Riley Children's Hospital since birth. She has had successful medical and surgical management. Although the multisynostoses seen in this disorder is undoubtedly related to the soft tissue malformations such as choanal stenosis and midface hypoplasia, the cause remains unknown. The literature is also reviewed in this condition.

Gastroesophageal abnormalities occur with increased frequency in patients with Brachmann-de Lange syndrome (BDLS) and contribute to problems with feeding, emesis and failure to thrive. Comprehensive evaluation including longitudinal assessment of growth and development of 8 patients with BDLS was performed. Clinically significant feeding problems occurred in 6 of the 8 patients and the affected children were subsequently evaluated for gastrointestinal abnormalities. Findings in these patients included tracheal aspiration, esophageal dysmotility, gastroesophageal reflux, hiatal hernia, and esophagitis. Medical treatment was instituted where appropriate, and surgical treatment was performed if the problems did not resolve with medical treatment. Improvement in weight centiles occurred in all patients fed by nasogastric or feeding gastrostomy tube but only one patient appeared to experience increase in rate of linear growth. Careful monitoring of symptoms and growth parameters, and prompt institution of appropriate medical and surgical measures can improve the health and physical outcome of many patients with BDLS.

Infants with complications of Pierre Robin sequence are at increased risk of airway obstruction and resultant hypoxia, cor pulmonale, failure to thrive, and cerebral impairment. In an effort to minimize such complications, patients with Pierre Robin sequence were examined prospectively by a multidisciplinary team using polysomnography and continuous oximetry. Obstructive apnea and desaturation occurred in 18 of the 21 patients studied. Four children required only home apnea monitoning, and six required only monitoring and supplemental oxygen. Seven children had lip-tongue adhesion procedures performed, and four required tracheostomy. No patients died. All patients with isolated Pierre Robin sequence had normal development at follow-up except for one child who had experienced a respiratory arrest before referral. With improvements in neonatal intensive care, testing for respiratory assessment, improved surgical and postoperative intervention and home monitoring, the morbidity and mortality for children with Pierre Robin sequence can be reduced markedly.

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