We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominent forehead, arched eyebrows, pronounced hypertelorism, long philtrum, mild interdigital webbing, fifth-finger clinodactyly, umbilical anomalies, and hypotonia. The mother and daughter also had ptosis requiring surgical correction. The daughter has bilateral iridochorioretinal colobomas with high hyperopia and a small umbilical hernia. The son has less striking facial features but was born with a small omphalocele, large ASD secundum, PDA, bilateral cryptorchidism right hydronephrosis, and a cystic left kidney. The mother had an umbilical hernia requiring surgical correction as a child and a history of heart murmur. Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. We conclude that cardiac defects in Teebi hypertelorism syndrome are not rare findings and that eye colobomas and renal anomalies were previously unrecognized.
injured. In this case there was much to be hoped for by careful and persevering treatment. The patient was of temperate habits, sound health, and was supplied with every comfort. His employers went to see him, and requested that great attention should be given. Sensation, respiration, and deglutition were perfect, and the tongue well protruded. Insensibility, from which he soon recovered, and loss of power over the sphincter muscles were the only dangerous symptoms of cerebral and spinal derangement. After clearing out the bowels, the object was to place the system under the influence of mercury, and to keep up its action. The jerking character of the pulse was very striking; it lasted many days, in spite of the bleedings and digitalis. The pain at the back of the head on the day after the accident was extreme ; the patient was obliged to be held in bed ; this was, no doubt, meningitis rapidly setting in, as it was so effectually relieved by the cupping. The constant abstraction of a small quantity of blood tended to promote absorption ; it also kept the brain in a quiescent state during its recovery from such a shock. The great irritation at the extremity of the nervous power was very remarkable, and I do not remember having noticed it before in such cases. Starvation diet and great abstemiousness upon convalescence were rigidly adhered to.This case is vividly impressed on my memory from an accident connected with the summons. A companion who had climbed the tree with Mr. U-drove to my house in a dogcart, begged me to go immediately, as his friend was dying, and offered to drive me to the spot and back. As my carriage was not ready, I assented, but was scarcely seated before the vehicle was upset. The driver was obliged to be put to bed at the nearest public-house, quite insensible, with concussion of the brain. I was much scratched, and proceeded, with plastered chin, &c., to the case of fractured skull. THE following, I believe, unique casualty occurred recently to a Prussian soldier at Schwest, on the Oder; and as the particulars may be interesting to my professional brethren in England, I send an abstract of the report of Dr. Berger, the Surgeon-general. Cannonier B-, of the Artillery of the Prussian Guard, was kicked by his horse a little below the lower jaw, whilst engaged in washing its hind hoofs. A small, unimportant skin-wound exhibited itself at the edge of the jaw, and some blood, but not much, flowed from the mouth. The neck, however, rapidly swelled to an extent sufficient to materially impede respiration. The patient complained only of a peculiar sensation of weight in the epigastrium, and stated that he felt as if blood had collected in his windpipe and prevented his breathing freely. There was no fracture or injury to be discovered in the larynx. The patient was at once bled, generally from the arm and locally by leeches, without the slightest effect upon the orthopnoea. The latter symptom continued to increase rapidly until so fearful an emphysema had established itself, that the chest, neck, a...
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