1/21. achondroplasia-hypochondroplasia complex in a newborn infant.We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to the C1620G (N450K) mutation in the FGFR3 gene. Neither had had genetic counseling or molecular testing prior to the pregnancy. Antenatal ultrasound study at 29 weeks of gestation showed a large head, very short limbs, and a small chest; the findings were more severe than in achondroplasia or hypochondroplasia alone. The patient was born by cesarean section at 37 weeks of gestation and had rhizomelic shortness of limbs with excess skin creases, large head, and small chest, diagnostic of achondroplasia. Radiographs showed shortness of the long bones and flaring of the metaphyses. She had mild hypoplasia of lungs. Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex. At 8 months, she has disproportionate shortness of the long bones and a large head with frontal bossing and a depressed nasal bridge. Her chest remains small, and she is on home oxygen at times of respiratory stress. She has a large gibbus. She is delayed in her motor development and has significant head lag. To our knowledge, there is only one previously published report of achondroplasia-hypochondroplasia complex.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/21. Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene. The fetus was found to carry both mutations diagnosed prenatally by amniocentesis at 17.6 weeks of gestation, following maternal serum screening which showed an increased risk for down syndrome (1:337). Detailed fetal ultrasound studies showed a large head, short limbs, and a small chest at 22 weeks of gestation. The changes were more severe than those of either achondroplasia or hypochondroplasia. The patient was born by cesarean section at 38 weeks of gestation and had rhizomelic shortness of the upper and lower limbs with excess skin folds, large head, enlarged fontanelles, frontal bossing, lumbar gibbus, trident position of the fingers, and a narrow chest with a horizontal line of demarcation at the narrowest area of the chest. Skeletal radiographs showed shortness of the long bones and flare of metaphyses. He had respiratory difficulties and was treated with nasal prongs. seizures developed on day 2 of life and recurred on day 9 and responded to treatment with phenobarbital. brain computed tomographic scan showed possible grey matter heterotopia, partial agenesis of the corpus callosum, and cortical dysplasia. To our knowledge, there are only two previously published cases of compound heterozygous achondroplasia-hypochondroplasia patients. The diagnosis was confirmed by dna mutation analysis of the FGFR3 gene in both cases.- - - - - - - - - - ranking = 0.93125346256488keywords = gestation (Clic here for more details about this article) |
3/21. Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a mother with achondroplasia (ACH) and a father with HCH. Serial sonographic measurements were recorded from 16 weeks of gestation. All measurements remained normal up to 22 weeks of gestation. At 25 weeks of gestation, the long bones began to appear shorter than expected for gestational age, while the head measurements (biparietal diameter and head circumference) remained normal. The measurements were sufficiently different to distinguish from findings in normal and achondroplastic fetuses. Our findings suggest that it is possible to distinguish the normal fetus from a fetus affected with HCH and to distinguish HCH and ACH from each other based on the sonographic measurements alone. To our knowledge, this is the first report of longitudinal sonographic measurements of HCH in the second and third trimesters.- - - - - - - - - - ranking = 1.2416712834198keywords = gestation (Clic here for more details about this article) |
4/21. Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.- - - - - - - - - - ranking = 0.31041782085496keywords = gestation (Clic here for more details about this article) |
5/21. Anesthesia for cesarean section for achondroplastic dwarf: a case report.This case report discusses the preanesthesia plan, actual anesthesia administration, and the postanesthesia course involving a gravid achondroplastic dwarf. The need for discussion of all anesthesia options when planning the anesthesia care associated with uncommon disorders and pregnancy is illustrated.- - - - - - - - - - ranking = 0.068746537435119keywords = pregnancy (Clic here for more details about this article) |
6/21. Different types of osteochondrodysplasia in a consecutive series of newborns.Among 14816 consecutive live births there were 7 cases of osteochondrodysplasia (incidence 1:2117). In addition there was 1 case of stippled epiphyses, possibly induced by anticonvulsive drugs taken by the mother during the pregnancy, and one case of cerebro-hepato-renal syndrome of Zellweger with roentgenological features similar to those of hypochondrodysplasia. None of 102 stillborns seen at the same time had osteochondrodysplasia. For genetic counselling an exact diagnosis is mandatory, radiological examination of the skeleton is often of decisive importance.- - - - - - - - - - ranking = 0.068746537435119keywords = pregnancy (Clic here for more details about this article) |
7/21. Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties.BACKGROUND: We report the first attempts at preimplantation genetic diagnosis (PGD) and IVF and their accompanying difficulties for achondroplasia (ACH) patients. methods: A PGD test was developed using fluorescent single cell PCR on lymphoblasts from patients and controls and from blastomeres from surplus IVF embryos. A specific digestion control based on the use of two fluorochromes was elaborated. Ovarian stimulation and oocyte retrieval were carried out using conventional protocols. RESULTS: We performed 88 single cell tests for which amplification was obtained in 86 (97.7%) single lymphoblasts. Allele drop out (ADO) was observed in two out of 53 (3.7%) heterozygous lymphoblasts. If we combine the results from the blastomere testing from surplus embryos with those from PGD cycles and re-analysis after PGD, we obtained a PCR signal in 84% of cases of which 91% were correctly diagnosed at the G380 locus. A total of six cycles were performed resulting in three embryo transfers. We observed difficulties in ovarian stimulation and oocyte retrieval with affected female patients. No pregnancy was obtained. CONCLUSION: A PGD test for ACH is now available at our centre but our initial practice raises questions on the feasibility of such a test, specially with affected female patients.- - - - - - - - - - ranking = 0.068746537435119keywords = pregnancy (Clic here for more details about this article) |
8/21. recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). Here we report on two pregnancies of a healthy, nonconsanguineous young couple. In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks' gestation. Clinical, radiological, and histological evaluation of the fetus after termination of the pregnancy showed typical findings of achondrogenesis type II. In the second pregnancy, fetal hygroma was noted at 11 weeks' gestation. Similar clinical, radiographic, and histologic findings were observed in the second fetus, suggesting the recurrence of achondrogenesis II within this family. Molecular analysis of genomic dna extracted from amniotic cells of the second fetus revealed heterozygosity for a 1340G > A missense mutation (G316D) in the COL2A1 gene. This mutation was not found in the parents. Although, we could not evaluate the presence of this mutation in the first fetus, we strongly believe that our data are in favor of germline mosaicism as the most likely explanation for the recurrence of type II achondrogenesis in both sibs.- - - - - - - - - - ranking = 0.82707525401528keywords = gestation, pregnancy (Clic here for more details about this article) |
9/21. prenatal diagnosis of achondroplasia.A 25 years old lady came to Centre for nuclear medicine and Ultrasound, Mymensingh for ultrasonographic evaluation of gestational condition. Transabdominal ultrasonogram showed mal development of skeletal system with abnormally shortened limbs. This seems to be a case of achnodroplasia, which was proved subsequently true after termination of pregnancy.- - - - - - - - - - ranking = 0.37916435829008keywords = gestation, pregnancy (Clic here for more details about this article) |
10/21. Failed regional anesthesia with reduced spinal bupivacaine dosage in a parturient with achondroplasia presenting for urgent cesarean section.A 36-year-old patient with a history of previous back surgery, asthma, latex allergy and achondroplasia presented for urgent cesarean delivery at 31 weeks' gestation for worsening nonimmune fetal hydrops. The fetus was diagnosed with trisomy 21 and achondroplasia. Because of the urgent clinical situation, the patient was given a spinal anesthetic, which required supplemental intravenous sedation after delivery of the fetus. This case report discusses the controversies in anesthetic management of this complicated patient and compromised fetus regarding general anesthesia, epidural, spinal and combined spinal-epidural anesthesia.- - - - - - - - - - ranking = 0.31041782085496keywords = gestation (Clic here for more details about this article) |
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