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PubMed1975

Tracheal agenesis.

Tracheal agenesis is a rare anomaly that produces neonatal respiratory distress and has been uniformly lethal to date. In this malformation the entire trachea is usually absent, air reaching the bronchi through a communication with the esophagus, and the lungs are normally formed. The diagnosis should be suspected in any infant in whom improved ventilation is obtained despite difficult intubation and abnormal tracheal tube placement. Coexistent cardiac, gastrointestinal, and genitourinary anomalies are common. The growth of the tracheoesophageal septum and the elongation of the dividing foregut are crucial phases in the morphogenesis of this malformation.

Abnormalities, Multiple↗
PubMed1980

Radiography of stillborn fetuses and infants dying at birth.

Twe series of stillborn fetuses and infants dying at birth were radiographed postmortem. Series A was largely unselected; in 18%, radiography showed developmental anomalies of early fetal life. Series B was highly selected; the abnormality rate was 75%. The depicted abnormalities were frequently both severe and diagnostically useful. In many cases the radiologic diagnoses were helpful in family counseling. Radiographic examination in selected cases is recommended, especially when structural abnormalities are evident on external inspection, and specific radiographic techniques are suggested.

Abnormalities, Multiple↗
PubMed1986

Aniridia, atypical iris defects, optic pit and the morning glory disc anomaly in a family.

A two-month-old girl with aniridia was found to have an optic pit in one eye and the morning glory disc anomaly in the other eye. The patient's mother had corectopia and atypical iris defects. The findings are described and the embryology of the various abnormalities briefly reviewed. This is the first report of such an association of findings in a family with aniridia. Failure of normal neuroectodermal development may play a role in the development of optic pits and the morning glory disc anomaly.

Abnormalities, Multiple↗
PubMedDate not supplied

Loveable synophthalmus?

The ancient Greek gave cyclopia a place in the world literature. Recently, synophthalmia in a beautified form has appeared on the toy market. In both cases human phantasy has adapted the horrible congenital situations by doing the anatomically impossible changes of putting the nose in the right place and suggesting that these conditions could be compatible with life.

Abnormalities, Multiple↗
PubMed1975

[Trisomy 11q. Individualization of a new syndrome].

The comparison of nine examples of trisomy for the distal segment of 11q permits definition of a clinical syndrome which includes the following: axial hypotonia with hypertonia of the limbs; an old-looking wrinkled face; a large beaked nose; microretrognathia with malformation of the palate; low-set ears; a prominent anterior helix; a prominent anthelix; a short neck; a narrow chest with nipples set widely apart; micropenis in the boys; congenital heart disease; renal agenesis or malformations of the urinary tract; agenesis of the thoracic girdle; dysplasia of the acetabulum; clubfeet.

Abnormalities, Multiple↗
PubMed2000

[A successful case of post operative management using nitrogen gas inhalation for a one-month old infant with high pulmonary blood flow].

We report a successful case of post operative management by inhaling nitrogen gas for a one-month old infant with high pulmonary blood flow after Blalock-Taussig shunt and plasty of the pulmonary artery. The operation was performed under extracorporial circulation. Nitrogen gas inhalation was dramatically effective for this infant to stabilize his post operative hemodynamic state. This therapy appears to be a very useful and easy handling technique in postoperative management for a patient with high pulmonary blood flow.

Abnormalities, Multiple↗
PubMed2000

[Dubowitz syndrome].

Explore the source record for details and available documents.

Abnormalities, Multiple↗