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Polymalformative syndrome characterized by nasal alar hypoplasia (beak shaped), scalp defects, hypothyroidism, pancreatic achylia, congenital heart defects, and congenital sensorineural deafness. Usually detected at birth when beak-shaped nasal defect is associated with an imperforate anus.

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Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency; Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia; Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness.

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Fewer than 50 patients reported in the literature.

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Autosomal recessive. Genetic defect not yet identified.

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Mainly unknown; clinically, the Johanson-Blizzard syndrome is a cluster of anomalies of preferentially midline structures formed during weeks 6 to 8 of gestation.

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Usually presents at birth when the nasal hypoplasia is associated with an imperforate anus. Prenatal diagnosis can be done. Usually growth retardation is only postnatal, but intrauterine growth retardation may be found in association with cardiac congenital abnormalities.

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Main diagnostic features include nasal alar hypoplasia, hypothyroidism, pancreatic achylia because of acinar development disorder, and congenital neurosensorial deafness. Patients have abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth. Pancreatic achylia leads to pancreatic insufficiency with malabsorption. Growth and mental retardation are common, and imperforate anus is almost always present. Associated signs include midline ectodermal scalp defects and absent permanent teeth. Urogenital disorders include double vagina and/or uterus, rectovaginal fistula, and imperforate anus. Brain imaging may show abnormal brain gyri, and neuropathologic examinations demonstrate cortical neuronal disorganization. Congenital heart defects include situs inversus and ventricular and septal defects.

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Check patient development and nutritional status. Side effects of malnutrition, particularly hypoproteinemia, may lead to modified drug distribution, and infections. Thyroid status must be assessed because severe hypothyroidism may have dire consequences during anesthesia. When emergent surgery is required in severe hypothyroid patients, a suggested strategy is to draw blood for thyroid hormone dosage and immediately administer a single 25-μg thyroxin dose. Hearing loss may render communication and preoperative explanations difficult. Complete evaluation of the heart (ECG, echocardiography ultrasound) must be obtained. Check for other associated abnormalities, especially the lungs.

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Because of the high risk of hypothermia (hypothyroidism and malnutrition), check body temperature and warm actively if necessary. Check blood glucose at regular intervals during and after intervention.

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In cases of malnutrition and decreased protein binding an increased clinical effect of protein-bound medications must be expected; therefore, doses must be reduced.

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Mucoviscidosis: Autosomal recessive disease of exocrine glands, involving many organs resulting in meconium ileus, chronic respiratory infections, pancreatic enzyme insufficiency with digestive malabsorption, and end-stage lung disease.

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Shwachman Syndrome: Congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and short stature; imperforate anus and Hirschsprung disease can be associated with this syndrome.

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Seckel Syndrome: Characterized by dwarfism, microcephaly, mental retardation, distinctive facial features including “beak-like“ protrusion of the nose, abnormally large eyes, a narrow face, malformed ears, and micrognathism. Other clinical features include clinodactyly, hip dysplasia, and ...

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