Syndromes of camptodactyly, multiple ankylosis, facial anomalies, and pulmonary hypoplasia.
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Biomedical subjects
Publications and source records attributed to J L Simpson.
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Clinical management of a child with ambiguous external genitalia requires physicians to consider the immediate management of the condition, as well as parental reactions. They must also obtain the necessary data upon which to make a diagnosis. This review summarizes the most common disorders causing genital ambiguity and suggests approaches toward delineation.
The advantage of a standardized nomenclature is apparent in any discipline. A standardized method for designating carbon molecules in steroid chemistry facilitates communication in endocrinology; consistent staging methods permit comparison of data in oncology. Likewise, a standardized method for designating cytogenetic data facilitates communications in genetics. Therefore, investigators should adhere to the official recommendations summarized in this report.
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The purpose of this investigation was to determine whether the oxytocin challenge test (OCT) could serve as the primary method for managing pregnancies characterized by possible placental insufficiency. One hundred and five patients underwent 225 oxytocin challenge tests; no perinatal deaths occurred. Eight tests were positive, 21 suspicious, and 196 negative. Because of data obtained in a preliminary study, all 8 fetuses with positive tests were delivered by cesarean section. Four of the 8 had repetitive suspicious tests prior to a positive test, suggesting that utero-placental function may deteriorate gradually. Urinary excretion of estriol did not decrease significantly in any patient, suggesting that the OCT is a more sensitive indicator of placental function than excretion of estriol. Except for patients with preeclampsia who were induced for maternal indications, all pregnancies with a negative OCT were allowed to terminate spontaneously. Five of the 97 fetuses with negative tests developed late-onset deceleration patterns during labor. This indicates that a negative OCT will not necessarily predict fetal tolerance to labor, contrary to assertions made by some other investigators. It is concluded that the OCT can serve as the primary method for assessing the fetal status in pregnancies characterized by placental insufficiency.
A child with the Larsen syndrome is described. His multiple malformations included a flattened nasal bridge and other unusual facial features, a cleft palate, a poorly developed larynx and dislocations involving several joints.
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