The cardinal manifestations of Bardet-Beidl syndrome, a form of Laurence-Moon-Biedl syndrome

Article Abstract:

The Bardet-Beidl syndrome, a form of Laurence-Moon-Biedl syndrome, is characterized by degeneration of the retina (light-sensitive surface of the eye), obesity, extra fingers or toes, mental retardation, and small ovaries or testes. Patients who have four of these five features are diagnosed with Bardet-Beidl syndrome. Thirty-two patients, from 17 families, diagnosed with this syndrome were examined to determine the incidence of these features, the presence of kidney abnormalities, and the inter- and intrafamilial variations of this syndrome. The parents were blood relatives in one family, and presumably so in five others. Severe retinal degeneration was confirmed in the 28 patients who were examined for it. Twenty-nine of the 31 patients examined had either extra fingers or toes, or fusion between digits, which resulted in webbed fingers or toes. Obesity was present in 22 of the 25 patients who were weighed. Thirteen of the 32 patients were determined to be mentally retarded, and another third scored in the mentally retarded range on other intelligence tests. Seven out of eight men had small testes and genitalia that were not due to a deficiency of the male hormone, testosterone, which stimulates testicular growth. All 12 women studied had menstrual irregularities, with various hormonal abnormalities. Nine out of 20 patients had diabetes mellitus. All 21 patients examined had structural or functional abnormalities of the kidneys and three had developed renal failure. These findings indicate that the principal manifestations of Bardet-Biedl syndrome are severe retinal degeneration, abnormalities of the hands and feet, obesity, kidney abnormalities, and small testes. Mental retardation is not necessarily present in patients with Bardet-Beidl syndrome, but may be enhanced by visual problems, which should be treated with special education. Variation in the expression of this syndrome occurred among the families. (Consumer Summary produced by Reliance Medical Information, Inc.)

Brain diseases

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Selective delivery of an acardiac, acephalic twin

Article Abstract:

Acardia is the congenital absence of vital body organs and-or anatomical parts, and occurs in one out of every 35,000 births. Acardia acephalus is an absence of the fetal head and thoracic organs. This anomaly is thought to result from an umbilical artery-to-artery anastomosis between twin fetuses in the presence of a fused placenta, and is sometimes referred to as the 'twin reversed-arterial-perfusion sequence.' The other twin is formed normally, but is vulnerable to congestive heart failure and premature birth because its heart works as a pump for the deformed twin. There is a 50 percent mortality rate after birth in the normal twins. Prenatal diagnosis of this condition is possible, but there have only been a small number of reported cases. Three treatment options have been available: continuation of the pregnancy; termination of the pregnancy despite the presence of the normal twin; or selective early delivery of the abnormal fetus. A successful strategy in which the normal twin is delivered safely is possible with the use of surgical techniques in which umbilical blood circulation between the twins in interrupted before intrauterine heart failure develops in the normally formed twin. The surgical procedure is described.

Complications and side effects, Fetus, Physiological aspects, Surgery, Blood vessels, Pregnancy, Complications of, Pregnancy complications, Fetal surgery, Conjoined twins, Fetal heart, Multiple birth, column, Acardia

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An 8-1/2-year-old girl with a painful abdominal mass

Article Abstract:

An 8-year-old girl was admitted to a hospital with a painful abdominal mass and a history of fever, vomiting, loss of appetite, weight loss, and constipation. The pain began two years prior to admission. An X-ray and CT of her abdomen both showed a large mass filled with fluid and gas just below the stomach. Her doctors ruled out a tumor and focused on congenital anatomical abnormalities. One is bowel duplication, which means a small, abnormal piece of intestine grew alongside the normal intestine and may even be attached to it. This diagnosis was confirmed by laparoscopic surgery.

Gastrointestinal diseases

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