Theodore Kushnick

The Beckwith-Wiedemann syndrome. The exomphalos-macroglossia-gigantism syndrome.

From the Division of Genetics, Department of Pediatrics, New Jersey Medical School, College of Medicine and Dentistry of New Jersey, Newark, N. J. 07103. * Nan Faion T. Wu, M.D., Fellow in Genetics, New Jersey Medical School, Neward, N.J. † Theodore Kushnick, M.D., Professor of Pediatrics, New Jersey Medical School, Newark, N.J. Correspondence to Theodore Kushnick, M.D., New Jersey Medical School, Newark, N.J. SINCE THE FIRST REPORT by Beckwithl>2 in 1963, the symptom complex consisting of macroglossia, umbilical anomalies, visceromegaly with hypoglycemia, and postnatal gigantism has become a recognized syndrome. The literature on this syndrome has recently been reviewed by Filippi and McKusick.3

49, XXXXY patient with hemifacial microsomia

An infant with the phenotype of hemifacial microsomia is presented. He was also found to have the karyotype of a sex chromosome abnormality.

Prenatal diagnosis of Down syndrome in one of dizygotic twins

P. S., a 40-year-old woman, gravida 6, para 4, abortus 1, with four normal living children, was referred for genetic studies because of advanced maternal age. The patient’s blood type was AB, Rh negative, and her husband’s was Rh positive. The family history was negative for birth defects and twin pregnancies. There was no history of exposure to drugs, chemicals, infection, or radiation during this pregnancy. At week 17 of gestation, ultrasound examination revealed a twin gestation and amniocentesis was performed on each sac. RHOGAM* was administered following the procedures. Amniotic cell cytogenetic studies revealed that Twin A was female and afflicted with trisomy 21 and Twin B was normal and male. The patient elected termination of the pregnancy; cytogenetic studies of the aborted fetuses confirmed the amniocentesis findings.

Always Be Thorough

A LB10ST since birth, an eight-month-old .1; ~,. LMO Caucasian baby had had constipation and straining at stool and required laxatives. At times the abdomen became distended. At the age of five months his physician discovered a rectal stricture located 2.5 cm. proximal to the anus and began a program of digital dilatations. The manipulations occasionally caused a blood-streaked stool. Because the symptoms persisted he was referred to us.

Why a Damaged Baby

j weighed only 4 113 7 oz and had a head cir~ cnmfercnce of only 10 inches. On the second ~ day of life she had become icteric, and her uri~ nalysis had demonstrated proteinuria, erythro~ cytes, leukocytes and granular casts. ~ She was taken care of in the newborn nursery ~ until age 48 days, when she was sent home weigh~ ing 5 16 6 oz. Despite a ravenous appetite, her ~ weight gain had been extremely slow. The jaun~ dice had persisted and it was evident that her

Delinquent Behavior in a Boy

After each episode he would sleep for five to 10 minutes, and then be amnesic for preceding events. The mother had no knowledge as to how often these episodes occurred in school, but he had just been suspended from classes because of such antisocial acts as stealing money from teachers and relatives; walking on stage in the school auditorium before the entire class and burning the American flag; going up to the roof and throw-

Think big when a child takes a poison

* Professor of Pediatrics, New Jersey College of Medicine and Dentistry, Newark, N. J. 1 Johnson, P. K., Free, H. N. and Free, A. H.: A simplified urine and serum test for salicylate intoxication. J. Pediatrics 63: 949, 1963. AT MORNING ROUNDS, a 5-year-old black girl suspected of having salicylate intoxication was seen. She had been admitted the preceding evening, three hours after being found playing with

Immunologic interreactions in neoplastic diseases. A brief review.

From the Department of Pediatrics, College of Medicine of New Jersey at Newark, 100 Bergen Street, Newark, New Jersey 07103. * Professor of Pediatrics, Department of Pediatrics, College of Medicine of New Jersey at Newark, Martland Hospital Unit, Newark, New Jersey 07103. This review is concerned with some of the immunologic interreactions involved in neoplastic diseases. The facets that are considered include: the various tumor antigens; the immunosurveillance mechanism and, in particular, the thymic-dependent lymphocyte cellular immune response ; chromosomal and genetic aspects which predispose certain individuals to the development of particular neoplasias; and, finally, the implications for therapies based on immunologic manipulations.

Syndrome of the Abandoned Small Child

The demographic, social and clinical phe nomena which attend the medical care of abandoned children in a municipal hos pital are sufficiently distinctive and repeti tive to warrant the pattern being viewed as a medico-social entity or syndrome.