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At a glance

A 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 noticed in association with pancreatic insufficiency and the presence of an imperforate anus. Important features in anesthesia include in these infants distinctive craniofacial abnormalities with aplasia or hypoplasia of the nasal alae, maxillary hypoplasia, a small pointed chin, and small opening of the mouth and microcephaly.

Synonyms

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

History

This is a medical condition that was first described in the medical literature by Ann J. Johanson and Robert M. Blizzard in 1971. The defective gene was identified by Zenker, et al in 2006.

Incidence

The prevalence is estimated at 1:250,000 births worldwide. At this time, 60 patients have been reported in the literature. It affects males and females equally.

Genetic inheritance

Autosomal recessive inheritance trait. It is caused by mutations of the ubiquitin E3 ligase (UBR1) gene.

Pathophysiology

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

Diagnosis

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.

Clinical aspects

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.

Precautions before anesthesia

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 ...

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