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Autosomal recessive transmitted disease resulting in death in the first year of life secondary to neurologic disease and airway problems.

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Bowen-Hutterite Syndrome.

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Approximately 43 cases have been reported in the literature. 39 of them were Hutterite patients and 4 were from other populations. The estimated incidence in the Hutterite population is 1:355 live births.

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Autosomal recessive trait. Comprehensive pedigree records have enabled researchers to determine that all six of the Hutterite families are related to a kindred extending back to the 1770s. The Hutterites subdivided into three Leute groups after arriving in North America in the late 1800s. Cases recognized from colonies in northern and southern Alberta, South Dakota, and southern Manitoba suggest the gene for this condition may be widely distributed among this population. Consanguinity was present within this pedigree. The gene locus has been mapped to 12p13.3.

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The gene responsible for this syndrome and the underlying pathophysiology has not been determined. The exact cause of death in these neonates remains unclear, but the combination of severe neurologic impairment and airway abnormalities has been implicated.

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Clinical course, physical appearance, and familial history. Bowen-Conradi syndrome is morphologically very similar to trisomy 18, however, chromosome analysis is normal in the former.

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Major features are proportional intrauterine growth retardation and low birth weight, microcephaly, dolichocephaly, sloping forehead, severe micrognathia, retroglossia, narrow pharynx, prominent nose, rocker-bottom feet, mild joint movement limitations, and undescended testes. Neonates with this condition have a significant neurologic deficit with poor muscle tone, feeding, and crying, and developmental delay. The average age at death is 13 months (range 1 day to 9 years).

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Obtain a full clinical assessment of the airway (micrognathia, retroglossia, narrow pharynx), the degree of neurologic impairment (hypotonia, feeding difficulties, aspiration, impairment of pharyngeal and laryngeal reflexes), the respiratory system (pneumonia, hypoventilation secondary to hypotonia, sleep apnea or obstructive episodes), and nutritional status. Laboratory investigations should include a complete blood count, urea and electrolytes, and arterial blood gases (indicator of pulmonary function).

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Difficult direct laryngoscopy and tracheal intubation should be anticipated in all cases. All the necessary adjuncts for management of the difficult airway should be prepared before induction of anesthesia. Inhalational induction with spontaneous respiration prior to tracheal intubation or an awake fiberoptic intubation technique are the safest approaches. In extreme instances, a tracheostomy may be required prior to surgery. Use of regional anesthesia techniques is not specifically contraindicated and will decrease the need for opioids with their respiratory depressant side effects. A postoperative period of elective mechanical ventilation may be necessary because of hypotonia, abnormal ventilatory control, and poor respiratory function. After tracheal extubation, patients will require continued cardiovascular, respiratory, and neurologic monitoring in a high-dependency area because of the risk of apnea and airway obstruction.

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Care should be taken when administering sedative, inhalational, opioid, or muscle-relaxing drugs because these children are highly sensitive ...

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