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The case of a 17-year-old woman with a birth defect called uterus didelphys is described. In this condition, the woman has two uteruses and two vaginas, one of which may be blocked by a wall of tissue. This can cause abnormal menstrual bleeding.

We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.

Congenital lower lid entropion (inversion or turning inward of the margin of the lower eyelid) is rare. It is important to distinguish this condition from epiblepharon, in which a fold of skin passes across the margin of the eyelid so that the eyelashes are pressed against the eye. Epiblepharon is common, especially in Japanese children among whom the incidence is 24 percent in children one year of age. Epiblepharon does not usually cause severe corneal irritation and resolves spontaneously; however, congenital entropion must be quickly treated to avoid potentially blinding scarring of the cornea. It is believed to be caused by improper development of the insertion of the eyelid retractor muscle aponeurosis. Three patients who had this abnormality are presented. One patient had several congenital systemic and facial abnormalities, and correction of the entropion was not performed until she was 13 months old. The second patient had eye inflammation noted at one day of age with subsequent diagnosis of corneal ulcer; he was diagnosed to have entropion at the age of three weeks. The third patient had conjunctivitis since birth; he was diagnosed with entropion at two weeks of age. All three patients underwent surgery at which time defects in the aponeurosis were sought, but in each patient the eyelid muscles were inserted normally. In all patients, surgical correction was successful. These findings indicate that improper insertion of the lower eyelid retractor muscles is not always the cause of congenital entropion. (Consumer Summary produced by Reliance Medical Information, Inc.)

Generalized bronchiectasis is the widespread dilation of the bronchi, or airways, and may be congenital (present at birth) or result from bacterial infection. It is characterized by symptoms of cough, difficulty breathing, and foul smelling sputum. Congenital generalized bronchiectasis has been associated with various genetic disorders, including the Williams-Campbell syndrome. This syndrome is characterized by soft, compliant, or flexible, bronchi that dilate and collapse during inhalation and exhalation; extensive lack of cartilage tissue in the airways; and symptoms of chronic cough, wheezing, difficulty breathing, and recurrent respiratory infection. A diagnosis of congenital bronchiectasis is usually made during childhood and is based on findings of physical examination, laboratory and lung function tests, examination of the bronchi by bronchoscopy or imaging techniques, and chest X-ray. A case is described of a 23-year-old man with the characteristics of congenital bronchiectasis, or the Williams-Campbell syndrome. This case was unusual in that it was recognized in adulthood. The patient had a history of respiratory illness and experienced difficulty breathing after walking and exercise. Findings from chest X-ray, lung function tests, and computed tomographic scan of the chest suggested a diagnosis of Williams-Campbell syndrome. He was placed on home oxygen treatment and taught methods to drain fluids from his lungs by changing body position and percussing, or tapping, on the chest wall. The Williams-Campbell syndrome should be considered in adult patients with generalized bronchiectasis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Omphaloceles are defects of the fetal abdominal wall in which part of the bowel protrudes through the umbilicus; they occur at a rate of approximately 1 in every 4,000 to 5,000 live births. Large omphaloceles are associated with major congenital abnormalities; prenatal ultrasound diagnosis is invaluable in predicting the extent of damage and anticipating complications. To learn more regarding the complications that accompany this defect, the records from 28 infants born over a five-year period at one hospital were reviewed. Twelve omphaloceles were considered small (smaller than five centimeters in diameter), and 16 were considered giant (five centimeters or more). Three infants in each group were born prematurely. One death occurred in the group with small omphaloceles, for reasons unrelated to the defect. Mortality was considerably higher for infants with giant omphaloceles: 10 of 16 died. The anomalies associated with these giant defects are listed. Five infants had heart defects, three had diaphragmatic hernias (location of the abdominal contents in the chest cavity, following their movement through the diaphragm in development), and two had central nervous system abnormalities. The six survivors with giant defects did not have major malformations; one had trisomy 21 (Down syndrome). The results show that giant omphaloceles are associated with a poor prognosis; thus, prenatal diagnostic efforts should attempt to characterize such defects in any cases where their presence is suspected. (Consumer Summary produced by Reliance Medical Information, Inc.)

Septo-optic dysplasia involves various developmental anomalies affecting the midline of the brain. These anomalies include incomplete development of the optic nerve and possibly pituitary gland insufficiency, and can result in blindness. Depending on the severity of optic nerve abnormality, vision can range from no light perception to nystagmus (involuntary rhythmic eye movements), strabismus (cross-eyed), and, rarely, only a slight reduction in vision, such as 20/30 vision. A review of published reports reveals that approximately two-thirds of patients with septo-optic dysplasia have some type of pituitary insufficiency. In 42 percent of cases describing neurologic status, one or more nonpituitary neurologic deficits was also reported. Seizures, delays in psychomotor development, and mental retardation were the most commonly reported abnormalities. The cases of a brother and sister treated for septo-optic dysplasia are presented. The first patient, a girl, was first seen at 5 months of age because of suspected vision impairment. The pregnancy had been uneventful. Eye examination revealed no response to light. Although initial thyroid function studies were normal, by 23 months of age the child was hypothyroid. She was unable to roll over, but could control her head movements. At 17 months she developed seizures. The brother, born when the sister was 3.5 years old, was suspected of having visual problems at 10 weeks of age. Reaction to light was absent and the diagnosis of septo-optic dysplasia was made. At nine months of age, he developed seizures. Growth hormone abnormality was suspected. The occurrence of this disorder within the same family suggests the possibility of autosomal-recessive inheritance. (Consumer Summary produced by Reliance Medical Information, Inc.)

The case history is presented of a newborn baby with a rare type of cancer known as rhabdoid sarcoma. This type of tumor usually arises in the kidney, and spreading to the skin is not common. In this case, the patient had a large tumor on the right side of the face, with a nodule and a plaque noted on the leg and back, respectively. Other abnormalities, and the overall poor prognosis, led to extubation (removal of the breathing tube) on the third day of life, resulting in death. A review of the medical literature on rhabdoid sarcoma is presented. This diagnosis generally has a grim prognosis, with the longest surviving patient remaining disease-free for 44 months: most die within two years of diagnosis. The tumor is found most often in male newborns and infants, although adult cases have been reported. (Consumer Summary produced by Reliance Medical Information, Inc.)

A rare case of intralobular pulmonary sequestration (ILS) with three aberrant arteries occurred in a 75-year-old woman. A contrast-enhanced chest CT scan demonstrated a paraaortic, partially enhanced mass shadow and [...]

Achondrogenesis may be successfully diagnosed by ultrasound examination in the first trimester of pregnancy. Achondrogenesis is a fatal developmental defect characterized by very short limbs, lack of bone formation, and large head. A 34-year-old woman in her first trimester of pregnancy had an ultrasound examination because a previous pregnancy had received an ultrasound diagnosis of achondrogenesis in the second trimester of pregnancy two years earlier. The current ultrasound examination revealed a twin pregnancy, with one normal twin and one with achondrogenesis. The woman gave birth at 35 weeks of pregnancy to a healthy boy and to a stillborn girl. The girl was determined to have achondrogenesis, as correctly diagnosed by prenatal ultrasound examination.

Diffuse neonatal hemangiomatosis (DNH) is a disorder of newborns characterized by the development of multiple skin and abdominal hemangiomas, which are noncancerous tumors of dilated blood vessels. This disorder causes death in 60 percent of affected children in the first months of life. DNH commonly affects the skin, liver, lungs, intestines, and central nervous system. Death usually is a consequence of heart failure due to the shunting, or abnormal flow of blood, between the liver and lungs, and bleeding from upper respiratory and gastrointestinal tumors. A case is described of an infant with DNH associated with various congenital abnormalities. These included the absence of a corpus callosum, a band of nerve fibers that connect the brain hemispheres; ectopia cordis, the abnormal positioning of the heart, such that it lies out of the chest cavity; and tricuspid atresia, the closure of the heart valve lying between the right atrium and right ventricle. The infant died at 26 days of age. (Consumer Summary produced by Reliance Medical Information, Inc.)

A case study of a woman with posttraumatic scarring of the lower abdomen and thigh where tissue expansion during pregnancy is successfully used for scar correction is presented. Clinical examination on a 14-year-old girl who was injured in a traffic accident, showed a scar deformity at the right lower abdomen, groin, and ventral thigh.

Doctors report the first known case of a specific type of lung abnormality that was diagnosed prenatally. At 29 weeks of pregnancy, an ultrasound scan showed a mass around the baby's heart. An MRI scan showed that the mass did not originate in the heart. Five days after birth, the mass was surgically removed and was identified as a piece of lung tissue.

The case report is presented of a fetus with laryngeal atresia (failure of the larynx to develop), a rare, fatal birth defect. Abnormalities were detected on ultrasound examination at 23 weeks' gestation, after the mother gained eight pounds in one week and developed high blood pressure. The fetus had enlarged lungs, a compressed heart, and extensive fluid retention. Labor was induced and the fetus was delivered stillborn. The lung enlargement in such cases results from the accumulation of fetal lung secretions, which are retained, since they cannot pass out the airway. Comments concerning the diagnostic findings are presented. Ultrasound examination earlier than the second trimester of pregnancy may fail to detect laryngeal atresia: the fetus discussed here had appeared anatomically normal at 15 weeks' gestation. (Consumer Summary produced by Reliance Medical Information, Inc.)

The subclavian vein (the main vein that drains the arm) can become compressed by surrounding muscles and ligaments, leading to swelling or a feeling of fullness in the arm. The vessel can also be obstructed by a blood clot. However, a third and rare cause of subclavian vein obstruction is a venous web (a membranous structure, spanning the vessel's lumen). The case history of a seven and one-half year old child with such a web, resulting from a congenital condition, is reported. The patient's left arm and left chest wall often swelled, especially after exercise. The girl had fractured this arm at the age of four. Surgery revealed the membranous web, which had partially obstructed the subclavian vein. The web contained a central opening that allowed blood to pass. It was completely opened surgically and the patient recovered without complications. The arm was noticeably smaller by the fifth day after surgery. In this case, exercise had increased blood flow through the subclavian vein, resulting in compromised circulation. (Consumer Summary produced by Reliance Medical Information, Inc.)

We present a rare case of a congenital bronchoesophageal fistula in a 54-year-old woman with a history of poor feeding tolerance since infancy and repeated pulmonary infections. She initially presented [...]