1/47. 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) |
2/47. 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 = 0.9561632729044keywords = gestation (Clic here for more details about this article) |
3/47. prenatal diagnosis of thoracopelvic dysplasia. A case report.BACKGROUND: Thoracopelvic dysplasia, a variant of asphyxiating thoracic dysplasia (Jeune syndrome), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and renal anomalies. CASE: A 32-year-old woman, gravida 1, para 0, was referred at 27 weeks' gestation due to polyhydramnios. Sonography revealed hydramnios, low fetal thoracic circumference (TC) and abdominal circumference (AC) ratio (0.78), skull and skin edema, increased nuchal translucency (7 mm), micrognathia, low-set ears, left cardiac deviation (66 degrees), overriding fingers, and club and rock-buttock feet. amniocentesis revealed a normal karyotype (46, XY). Asphyxiating thoracic dysplasia was considered. At 40 weeks' gestation, a male infant was delivered vaginally. Besides the prenatal findings, cryptorchidism and high-arched palate were noted. radiography of the infant revealed a narrow, funnel-shaped thorax and small pelvis with short, flared iliac bones; poorly developed acetabulum; and small, shallow sciatic notch. No dyspnea was observed at five months postpartum. CONCLUSION: Thoracopelvic dysplasia should be considered when a low TC/AC ratio (< 0.8) is observed. In this case the final diagnosis was made after detailed exclusion of other disorders combined with observation of a small thorax. prenatal diagnosis of thoracopelvic dysplasia is possible.- - - - - - - - - - ranking = 0.63744218193627keywords = gestation (Clic here for more details about this article) |
4/47. 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 = 1.2748843638725keywords = gestation (Clic here for more details about this article) |
5/47. Prenatal ultrasonographic diagnosis of posteromedial bowing of the leg: two case reports.Congenital posteromedial bowing of the leg was prenatally detected in two pregnancies, at 20 and 31 weeks of gestation. Posteromedial bowing is a rare anomaly of unknown etiology. The prenatal course, monitored by ultrasonography, and the postnatal clinical and radiographic outcomes are discussed and show a complex differential diagnosis. The initial postnatal therapy is conservative. leg length discrepancy can eventually be treated by lengthening or epiphysiodesis on the contralateral side.- - - - - - - - - - ranking = 0.31872109096813keywords = gestation (Clic here for more details about this article) |
6/47. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.Microcephalic osteodysplastic primordial dwarfism is a rare disease characterized by unique clinical appearance and specific radiographic findings, and distinctive brain abnormalities. We describe the prenatal diagnosis of two siblings with microcephalic osteodysplastic primordial dwarfism types I/III at 23 and 26 weeks of gestation, respectively. Early detection by sequential antenatal sonographic evaluation is important for counselling families known to be at risk of this rare disease.- - - - - - - - - - ranking = 0.31872109096813keywords = gestation (Clic here for more details about this article) |
7/47. Successful epidural anaesthesia for Caesarean section in a patient with spondyloepiphyseal dysplasia.Spondyloepiphyseal dysplasia congenita is a rare genetic entity in which it is very important to involve anaesthetists early on to discuss the possible anaesthetic complications for both general or regional anaesthesia. A case is described of a patient with spondyloepiphyseal dysplasia and multifetal pregnancy in which successful epidural anaesthesia for caesarean section was performed.- - - - - - - - - - ranking = 0.043836727095601keywords = pregnancy (Clic here for more details about this article) |
8/47. Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or lethal condition. We describe the prenatal sonographic diagnosis of Jeune syndrome at 14 weeks of gestation in a fetus at risk for this condition, and the development of the syndrome throughout the pregnancy.- - - - - - - - - - ranking = 0.36255781806373keywords = gestation, pregnancy (Clic here for more details about this article) |
9/47. 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 = 0.043836727095601keywords = pregnancy (Clic here for more details about this article) |
10/47. Omodysplasia: an affected mother and son.We describe a second family with mother to son transmission of omodysplasia, a rare skeletal dysplasia characterized by shortened humeri, shortened first metacarpals and craniofacial dysmorphism. The mother in this family had been diagnosed previously with Robinow syndrome; subsequently, her diagnosis was reclassified. Her pregnancy was closely monitored antenatally with serial ultrasound examinations. Delayed ossification of the humerus was noted prenatally. Her son had ambiguous genitalia and similar skeletal manifestations as his mother. A comparison to other known and suspected cases of dominant omodysplasia is presented. Our observations confirm the existence of a dominant variant of omodysplasia, document genital hypoplasia as an important feature of this syndrome in males and highlight the need to differentiate this entity from Robinow syndrome.- - - - - - - - - - ranking = 0.043836727095601keywords = pregnancy (Clic here for more details about this article) |
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