1/26. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
2/26. Aplasia cutis congenita in an infant of an initial triplet gestation: a case report.Aplasia cutis congenita (ACC) is the clinical manifestation of an uncommon group of skin disorders. One postulated etiology is disseminated intravascular coagulation from release of thrombogenic maternal arising from placental injury or fetal demise. This leads to disruption of the ectodermal blood supply responsible for the skin defects. We present a neonate with group V ACC, one of an initial triplet gestation, associated with fetal demise at 14 weeks and formation of a fetus papyraceus. The practice of selective fetal reduction as a result of multiple gestation seen with the use of fertility drugs may in theory increase the incidence of group V ACC.- - - - - - - - - - ranking = 12.665242233728keywords = gestation (Clic here for more details about this article) |
3/26. Reparation of a severe case of aplasia cutis congenita with engineered skin.Aplasia cutis congenita (ACC) is an uncommon congenital malformation. It is characterized by defects of the skin that occur most frequently on the scalp along the midline, but can also be localized on the trunk, face and limbs, usually with a symmetrical distribution. When it is localized in the skull it can extend to the dura mater, leaving only the thin pia mater to protect the brain. The most common complications related to this disorder are infection, hemorrhage, and, in defects localized on the vertex, meningitis and bleeding from the sagittal sinus can occur with dramatic consequences. In those cases some authors suggest the use of local flaps even if this implies a surgical procedure. In this case a 2.540-kg baby was delivered at 40 weeks of gestation by eutocic delivery, and good adaptation to extrauterine life. At birth the baby showed a large cutaneous and osseous defect at the vertex measuring 68 cm(2), equal to almost one third of the calvarial surface, and extended to the dura mater through which it was possible to see the sagittal sinus and the brain surface with its vessels. skull x-rays showed loss of normal radioopacity of the cranial vault with lack of ossification especially at the parietal level. In our patient we therefore decided to use a composite graft of cultured autologous fibroblasts and keratinocytes to provide coverage, avoiding any surgical procedure and patient morbidity. This technique consists first in an autograft of cultured fibroblasts which has proved to promote the production of type IV collagen, fibronectin and laminin whereby creating an ideal bed for the taking of the graft of cultured keratinocytes, to be put in place a week later. The use of a composite graft with both the derma-like and epithelial components has been also suggested to diminish scarring. Two months after the last graft area was completely closed.- - - - - - - - - - ranking = 2.1108737056213keywords = gestation (Clic here for more details about this article) |
4/26. Aplasia cutis congenita in surviving co-twins: four unrelated cases.Four unrelated patients born from twin pregnancies and showing extracranial aplasia cutis congenita are reported. All the patients lost their co-twins during the first half of the pregnancy. Two of the patients had the characteristic truncal and symmetrical type of aplasia cutis associated with fetus papyraceus and placental abnormalities. The presence of multiple hepatic hematomas in one of them gives further credit to a "vascular disruption" as the possible pathogenetic mechanism of the disorder. The two other patients were born with symmetrical aplasia cutis at the extensory aspects of both knees, which presumably represents a milder expression of the former defect. Thus the so-called aplasia cutis with fetus papyraceus shows heterogeneity in localization, extension, presence of extracutaneous abnormalities, and possible association with fetus papyraceus at birth. To include all the patients affected by this peculiar type of aplasia cutis congenita, the designation of aplasia cutis with extracranial symmetrical involvement is proposed.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
5/26. EEC (Ectrodactyly, ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and dna-based prenatal diagnosis.BACKGROUND: Germline mis-sense mutations in the dna-binding domain of the p63 gene have recently been established as the molecular basis for the autosomal dominant EEC (Ectrodactyly, ectodermal dysplasia, Clefting) syndrome. OBJECTIVES: To examine genomic dna from a 36-year-old woman, her 58-year-old father and her 11-year-old son, all with the EEC syndrome, to determine the inherent p63 mutation and, after genetic counselling, to use knowledge of the mutation to undertake a first-trimester dna-based prenatal diagnosis in a subsequent pregnancy. methods: Fetal dna was extracted from chorionic villi and used to amplify exon 7 of p63 containing the potential mutation. Direct sequencing and restriction endonuclease digestion (loss of AciI site on mutant allele) were used for dna-based prenatal diagnosis. RESULTS: We identified a heterozygous arginine to histidine p63 mutation, R279H, in all three affected individuals. prenatal diagnosis demonstrated a homozygous wild-type sequence predicting an unaffected child: a healthy boy was subsequently born at full-term. CONCLUSIONS: These data expand the p63 gene mutation database and provide the first example of a dna-based prenatal test in this ectodermal dysplasia syndrome.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
6/26. Aplasia cutis congenita in two siblings.We report on two siblings with aplasia cutis congenita (ACC). This rare congenital malformation is characterized by a local defect of epidermis, dermis, and subcutaneous tissues occurring predominantly on the vertex of the scalp. Patient A (a boy) was born with a parietooccipital 4 x 4 cm scalp defect, that healed under conservative treatment with scar formation within three months. At the age of three years we started with serial excisions of the affected area. In patient B (a girl) two 1.5 x 1.5 cm midline scalp defects were noted at birth. After primary conservative treatment we performed an excision at the age of three years. Both children were born at term following normal pregnancy and delivery. Neither physical nor psychomotor retardation nor any other associated abnormality was found in these cases. Two younger brothers were born without any skin defects or other anomalies. There is no unifying theory on the pathogenesis of ACC. Traumatic, vascular, teratogenic, and genetic factors are discussed as initial steps in etiopathogenesis. In this family the occurrence of ACC in two siblings of either sex, with unaffected parents, may suggest an autosomal recessive mode of transmission. However autosomal dominant inheritance with germline mosaicism in one parent can not be excluded.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
7/26. 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 = 2.1108737056213keywords = gestation (Clic here for more details about this article) |
8/26. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alphafetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.- - - - - - - - - - ranking = 2.1108737056213keywords = gestation (Clic here for more details about this article) |
9/26. Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography.ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. dna-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.- - - - - - - - - - ranking = 3.1108737056213keywords = gestation, pregnancy (Clic here for more details about this article) |
10/26. Malformations following methimazole exposure in utero: an open issue.BACKGROUND: In hyperthyroidism-complicated pregnancies, medical therapy is necessary to reach an euthyroid condition, and propylthiouracil (PTU) or methimazole (MMI) are used. These drugs are equally effective, but may cause fetal and neonatal hypothyroidism because they freely cross the placenta. Although PTU has not been significantly associated with embryo-fetal anomalies, it has been suggested that MMI might be responsible for a specific embryopathy. CASE(S): Two cases of major congenital anomalies after MMI exposure during pregnancy are reported. CONCLUSIONS: PTU should be the drug of choice, and the use of MMI should be restricted to cases with allergic reactions, intolerance, or poor response to PTU.- - - - - - - - - - ranking = 1keywords = pregnancy (Clic here for more details about this article) |
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