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At least 505 records · Page 28Linked to original sources
PubMed1981

Link between caudal regression and Vater syndromes.

A variant between caudal and regression and Vater syndromes is presented which was significant anomalies of the genitourinary tract. The patient has a normal 46XX karyotype with the following urogenital anomalies: solitary pelvic kidney with megacalycosis, high ureteral bud or diverticulum, and ectopic insertion of the ureter into the proximal urethra; as well as, sacral agenesis, vaginal atresia, aberrant gonadal tissue, and uterine agenesis.

Abnormalities, Multiple↗
PubMed2004

Is surgery necessary for asymptomatic tethered cord in anorectal malformation patients?

BACKGROUND: Evidence supporting routine surgery for asymptomatic tethered cord in patients with anorectal malformation (ARM) is, at best, speculative. The authors therefore examined whether untethering is indicated for asymptomatic tethered cord in patients with ARM. METHODS: A retrospective analysis of all patients with ARM (n = 223) between 1992 and 2002 was conducted. During the same period, 435 patients had surgery for tethered cord. RESULTS: Tethered cord was detected radiologically in 22 (9.8%); 8 patients with a low conus, and 14 with a low conus with and thickened filum. Seven of 22 patients underwent untethering; 3 prophylatic (14%) and 4 for neuro/motor function deficits (18%). All 4 symptomatic patients had significant clinical improvement in their neuro/motor functions after surgery. However, bowel and urinary functions remained unchanged in all 7 patients with a mean follow-up of 6.4 years (range, 4 to 8 years). Fifteen patients with radiologically diagnosed tethered cord remain asymptomatic with a mean follow-up of 2.7 years (range, 8 months to 10 years). CONCLUSIONS: Neuro/motor functions clearly improved with surgery in symptomatic patients. However, bowel and urinary functions remained unchanged after surgery. Only 4 ARM patients with tethered cord required surgery, whereas prophylactic surgery appears to have minimal benefit. Expectant conservative approach in the management of asymptomatic tethered cord patient appears to be safe.

Abnormalities, Multiple↗
PubMed2001

Congenital malformations among infants whose mothers had gestational diabetes or preexisting diabetes.

BACKGROUND: Diabetes type 1 is associated with an increased risk for infant congenital malformations. It is debated whether this is true also at gestational diabetes. AIMS: To study occurrence of congenital malformations in infants whose mothers had preexisting or gestational diabetes. STUDY DESIGN: A register study covering over 1.2 million Swedish births in 1987-1997 based on the Swedish health registries. SUBJECTS: We identified from the Medical Birth Registry 3864 infants born of women with preexisting diabetes and 8688 infants born of women with gestational diabetes. OUTCOMES MEASURES: Congenital malformations identified in the Medical Birth Registry, the Registry of Congenital Malformations, and the Hospital Discharge Registry. The rates of congenital malformations among these infants was compared with the population rates. RESULTS: At preexisting diabetes, the total malformation rate was 9.5% while the rate at gestational diabetes was similar to the population rate, 5.7%. At preexisting diabetes, certain conditions were more common than expected: orofacial clefts, cardiovascular defects, oesophageal/intestinal atresia, hypospadias, limb reduction defects, spine malformations, and polydactyly. For some of these conditions, an excess was found also for infants whose mothers had gestational diabetes. Infants with multiple malformations were in excess at preexisting diabetes but not at gestational diabetes but the specific type of malformations involved were similar in the two diabetes groups. CONCLUSIONS: It is suggested that in the group of gestational diabetes exists a subgroup with an increased risk for a diabetes embryopathy, perhaps due to preexisting but undetected diabetes type 2.

Cleft Lip↗
PubMed1987

Chemical exposures at work in early pregnancy and congenital defect: a case-referent study.

Three hundred and one women who in their most recent pregnancy had given birth to an infant with an important congenital defect were individually matched with 301 women whose children were normal. Both cases and referents were drawn from a comprehensive survey of pregnancies in Montreal, 1982-4, and limited to women employed 30 or more hours a week until at least the 13th week of gestation. Occupational exposure to chemicals was investigated and the results classified without knowledge of case-referent status. In matched pair analysis the overall frequency of chemical exposure was higher in cases than referents (63:47), due to excesses in the cardiac and miscellaneous defect groups (ratios of 10:5 and 15:7 respectively). In analyses by nine chemical categories only exposure to aromatic solvents showed a clear excess (18:8; p approximately equal to 0.04), most evident in the urinary tract group (9:0). A comparison of cases and referents exposed to aromatic solvents showed that most of the excess was associated with toluene; the defects were varied but predominantly renal-urinary or gastrointestinal.

Abnormalities, Drug-Induced↗
PubMed1976

Cardiovascular malformations associated with tracheoesophageal fistula and esophageal atresia.

Cardiovascular malformations were present in 48 of 326 (14.7%) patients with tracheoesophageal fistula. The most common cardiac lesion was ventricular septal defect. When tracheoesophageal fistula or esophageal atresia was associated with other gastrointestinal anomalies, tetralogy of Fallot and atrial septal defect were very frequent; when skeletal anomalies were present, the cardiac malformations were usually complex. The hospital mortality in infants with tracheoesophageal fistula and cardiovascular malformations is 79% in contrast to 23% for infants without cardiac abnormalities.

Abnormalities, Multiple↗