1/39. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.A male patient with aphallia, anal stenosis, tetralogy of fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries.- - - - - - - - - - ranking = 1keywords = malformation, nervous system (Clic here for more details about this article) |
2/39. Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.We report on a new-born girl with multiple congenital anomalies consisting of major skeletal anomalies restricted to the left side, cleft palate, ventricular and atrial septal defect, retromicrognathia, short neck, dysplastic low-set ears and large birth weight. The left-side bony anomalies include shortening and bowing of the femur and tibia, hypoplasia of the fibula, hip dislocation, clubfoot and mild shortening of the long tubular bones in the left arm with elbow dislocation. The pregnancy was complicated by insulin-dependent gestational diabetes mellitus in the mother. The radiographic features were not consistent with the diagnosis of campomelic dysplasia, kyphomelic dysplasia or other skeletal dysplasias characterized by bowing and shortening of the long bones. To our knowledge, the multiple congenital anomalies, including major skeletal malformations, present in our case have never been simultaneously reported until now. A maternal diabetes syndrome in this infant is probable. The occurrence of major congenital malformations in offspring of women with gestational diabetes is reviewed and discussed. We provide evidence that gestational diabetes mellitus could be teratogenic. We recommend a careful diabetic control in every woman with a history of gestational diabetes.- - - - - - - - - - ranking = 0.21942541415165keywords = malformation (Clic here for more details about this article) |
3/39. Rhinocerebral mucormycosis in a pregnant woman with diabetic ketoacidosis.Rhinocerebral mucormycosis (RCM) is a rare but often fatal condition characterized by aggressive necrotizing infection originating from nose and spreading to paranasal sinuses, orbit and central nervous system. Although fungi and spores of mucorales show minimal intrinsic pathogenicity towards normal persons, they can initiate fulminant infections in patients with underlying debilitating conditions. A case of RCM in a pregnant woman with diabetic keto-acidosis successfully treated by supportive care, amphotericin b and surgery is reported.- - - - - - - - - - ranking = 0.012585636317597keywords = nervous system (Clic here for more details about this article) |
4/39. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.OBJECTIVES: To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS). STUDY DESIGN: Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals. RESULTS: Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85). CONCLUSIONS: Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration.- - - - - - - - - - ranking = 0.21942541415165keywords = malformation (Clic here for more details about this article) |
5/39. Sporadic aplasia cutis congenita.Aplasia cutis congenita (ACC) is a rare group of disorders characterized by the focal absence of skin at birth. The majority of cases affect the scalp, but involvement of the trunk and extremities has been described. Proposed etiologies for ACC include infection, vascular malformations, amniogenesis, and teratogens, but no unifying theory has been identified. We present the case of a 1-day-old female with large, bilateral posterolateral trunk skin defects noted at birth. The prenatal history was significant for maternal diabetes, fetal papyraceus at 12 weeks' gestation, and a family history of limb defects. The infant was treated non-surgically with local wound care and antibiotics, as well as frequent dressing changes. The areas of absent skin developed a granulation-tissue layer followed by re-epithelialization and mild wound contracture. With early identification of the etiology of the lesions and appropriate investigation and treatment, including conservative wound management, aplastic lesions can heal successfully without affecting growth, but may require cosmetic repair at a later stage.- - - - - - - - - - ranking = 0.10971270707582keywords = malformation (Clic here for more details about this article) |
6/39. Femoral-facial syndrome with malformations in the central nervous system.The femoral hypoplasia-unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS.- - - - - - - - - - ranking = 0.50177900989127keywords = malformation, nervous system (Clic here for more details about this article) |
7/39. Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother.Although most cases of extrahepatic biliary atresia are thought to result from perinatal obliterating inflammation, some are associated with a faulty morphogenesis. The authors report on a baby girl of a mother with ill-managed insulin-dependent diabetes mellitus. The baby presented with sacro-coccygeal agenesis, clubfoot, and ano-urinary incontinence. In addition, there was polysplenia, no inferior vena cava, and the portal vein was grossly distorted. Progressive conjugated hyperbilirubinemia prompted liver biopsy at 4 weeks of age, showing intracanalicular cholestasis without fibrosis. The diagnosis of extrahepatic biliary atresia was confirmed during laparotomy performed for hepatoportojejunostomy. Some cases of extrahepatic biliary atresia might be part of a spectrum of malformations associated with maternal diabetes mellitus.- - - - - - - - - - ranking = 0.10971270707582keywords = malformation (Clic here for more details about this article) |
8/39. Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes.The association of maternal diabetes mellitus and congenital anomalies is well established. Children of insulin-dependent diabetic women have an increased risk of congenital malformations, especially major multiorgan defects. The cardiovascular, central nervous, gastrointestinal, genitourinary and musculoskeletal are the most affected body systems. Studies also show that offspring of women with gestational diabetes (specially those with fasting hyperglycaemia) tend to have higher rates of congenital anomalies. We report two cases of infants born to unrelated mothers: one with diabetes mellitus first detected during pregnancy (gestational diabetes) and the other with pregestational diabetes. Both infants had amelia of the lower limbs (suggestive of caudal dysplasia sequence), together with cardiovascular, skeletal, urinary and gastrointestinal defects. While pregestational diabetes seems to leave no doubt about its teratogenicity, the association of gestational diabetes and fetal/newborn malformations is still under discussion. Complete absence of the lower limbs has not been reported in association with gestational diabetes, but it may represent a spectrum of the caudal dysplasia sequence. The presentation of two cases with the same clinical phenotype of mothers with gestational and pregestational diabetes supports the evidence that gestational diabetes can be responsible for the development of the most severe form of the caudal dysplasia sequence.- - - - - - - - - - ranking = 0.21942541415165keywords = malformation (Clic here for more details about this article) |
9/39. Severe hypothyroidism caused by hepatic hemangioendothelioma in an infant of a diabetic mother.Hemangioendotheliomas can express type 3 iodothyronine deiodinase and cause severe hypothyroidism. The risk of congenital malformations such as vertebral and cardiac abnormalities in infants of diabetic mothers is higher than in babies of healthy women. Here we report an infant of a diabetic mother with hypothyroidism caused by liver hemangioendothelioma. Consumptive hypothyroidism should be an indicator to search for a vascular tumor in infants. Supranormal doses of L-thyroxine might be required for normalization of thyroid function until the tumor involutes or is resected.- - - - - - - - - - ranking = 0.10971270707582keywords = malformation (Clic here for more details about this article) |
10/39. A case of rosiglitazone exposure in the second trimester of pregnancy.AIM: Data about rosiglitazone use in pregnancy is limited. We aimed to present a pregnant woman who exposed to rosiglitazone in the second trimester and the fetal outcome. SUBJECT: The case was a 42-year-old, multigravid Caucasian woman with a history of diabetes mellitus type II for 4 years prior to her current pregnancy. Her diabetes was managed by diet and exercise and she has not received any drug therapy until the 13th week of her sixth (present) and unplanned pregnancy. The case was exposed to rosiglitazone (4 mg/day) between 13th and 17th gestational weeks. After the diagnosis of pregnancy at the 17th week, rosiglitazone was stopped and insulin therapy was started. At the 37th week, she had a healthy male infant (4500 g, 50 cm). The baby was examined and no major or minor malformations were observed. CONCLUSION: This is the first case present in the literature exposed to rosiglitazone in the second trimester of her pregnancy. The data from the present case may contribute to the existing limited knowledge about rosiglitazone in pregnancy.- - - - - - - - - - ranking = 0.10971270707582keywords = malformation (Clic here for more details about this article) |
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