Stern-Tanner disease: a radical cure.
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Biomedical subjects
Publications and source records attributed to A H Lipson.
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The visual system is highly susceptible to involvement in many systemic disorders. Disorders of tissues common to the eye and the hand, such as vascular, connective and neural, may have striking clinical signs in both. Thus signs in the hand may provide useful diagnostic clues in the assessment of disorders of the visual system. The hand may even be causative in traumatic or infective eye diseases. This review provides a schema for a suitable hand examination and documents the eye and hand features of various common and uncommon disorders. The importance to the ophthalmologist of a careful hand examination is emphasised.
The Moebius syndrome consists of congenital seventh nerve palsy associated with other cranial nerve palsies, most often of the sixth, and/or musculoskeletal abnormalities. A retrospective study of the events of pregnancy in 15 cases was undertaken, after a rat animal model showed that abdominal trauma, uterine vessel clamping and handling and hyperthermia caused bilateral brainstem lesions in fetal rats. Eight of the 15 cases surveyed included a possible associated event during pregnancy; hyperthermia, previous uterine surgery, electric shock, failed abortion, prolonged rupture of the membranes, or alcohol abuse. These events can be correlated with animal studies that involve acute uteroplacental vascular insufficiency produced by a variety of methods. The cause of most cases of Moebius syndrome is probably a transient ischemic/hypoxic insult to the fetus.
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During the third week of pregnancy the human embryo undergoes a major developmental process, gastrulation, during which the two-layered embryo is converted into a three-layered embryo. At the same time, the upper epiblast layer is induced to form the neural plate. Evidence is presented which suggests that interference with this process by genetic, physical, or chemical agents can cause a range of CNS abnormalities and facial abnormalities, including those described as characteristic of the FAS.
"Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. We report the clinical, radiological, and pathological data of a patient with the typical picture of progressive growth delay; mild facial anomalies; small, abnormal hands; hepatosplenomegaly; and progressive cardiac valvular lesions. Electron microscopy of a liver biopsy showed similar and additional changes to those published previously.
The temporary clamping of the uterine blood vessels on one side of the uterus during late pregnancy in the rat (days 14-16) results in hemorrhage and tissue necrosis in the extremities of the fetuses from the experimental side and occasionally from the control side. A further series of experiments showed that similar fetal hemorrhage followed the temporary clamping (45 minutes) of the uterine wall or uterine fat, excluding major uterine vessels; handling the uterus for 5 minutes; and stretching of the uterine blood vessels. A low incidence of fetal hemorrhage was also associated with laparotomy alone, but the fetuses were unaffected by extensive handling of the uterus through the abdominal wall or by intraperitoneal anesthesia. Fetal hemorrhage was also induced by a short episode of severe maternal hyperthermia but not by a high dose of ethanol given by gavage. These results suggest that a range of uterine trauma may result in fetal hemorrhage, perhaps through a common mechanism.
A three-generation family with non-syndromic biopsy-proven Hirschsprung's disease involving both short and long segments of the large bowel is reported. Although this is the first three-generation family reported, it is expected that with the improved diagnosis and treatment that has occurred over the last 30 years further such families will be described, and that the heritability of this condition will be further clarified.
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We report blood alcohol levels for 32 ambulatory patients with chronic alcoholism. Seventeen patients (53%) had levels that exceeded 3 g/L but little clinical evidence of intoxication. The ability of a person with chronic alcoholism to tolerate high blood alcohol levels has important medical and forensic implications.
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Half brothers from the same mother had congenital left sided posterolateral diaphragmatic hernias repaired in the neonatal period. The inheritance of diaphragmatic hernia should probably be based on the multifactorial hypothesis.
We report oesophageal atresia without tracheo-oesophageal fistula in a father and daughter, the first case of recurrence of oesophageal atresia without fistula to be reported in a parent and offspring.
Twenty children affected by prenatal exposure to alcohol are described. Their mothers either suffered from chronic alcoholism, or were binge or heavy drinkers while pregnant. Only in nine mothers (45%) was alcohol abuse recognized and associated with their babies' anomalies in the first months after birth; in some, the diagnosis of fetal alcohol syndrome was delayed for many years. Alcohol abuse in pregnancy is probably a significant cause of birth and developmental defects in Australian children.