osteogenesis imperfecta/edema

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Osteopenia, abnormal dentition, hydrops fetalis and communicating hydrocephalus.

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Prijava / prijava

We describe a single male infant who developed severe hydrops fetalis between 19 and 28 weeks of gestation. After delivery at 32 weeks he was treated by hemofiltration, prolonged ventilation and intravenous feeding. He had hypertelorism, orbital hypoplasia without proptosis, brachydactyly, frontal

SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE.

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Prijava / prijava

OBJECTIVE To describe a case of scleral buckling in a patient with severe (Type III) osteogenesis imperfecta. METHODS Single interventional case report of a 37-year-old woman, with clinically diagnosed osteogenesis imperfecta Type III, presenting with an inferior retinal detachment of the right eye.

[The difficulty of diagnosing Caffey's disease in utero. Apropos of a case simulating lethal osteogenesis imperfecta].

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Prijava / prijava

A very early case of infantile cortical hyperplasia (Caffey disease) is reported. The ultrasound examination performed at 22 weeks gestational age evidenced angulations of the long bones, leading to the diagnosis of lethal osteogenesis imperfecta. Hydrops fetalis developed and the pregnancy was

Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings.

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Prijava / prijava

Hyperplastic callus formation is a noteworthy condition in patients with osteogenesis imperfecta because it often mimicks osteosarcoma on radiography. The findings of CT and MRI in hyperplastic callus formation have not been reported. In the presented case, MRI demonstrated contrast enhancement and

Prenatal diagnosis of osteogenesis imperfecta type II.

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Prijava / prijava

OBJECTIVE To characterize the prenatal sonographic features of osteogenesis imperfecta (OI) type II. METHODS Descriptive (case series). METHODS Department of Obstetrics and Gynecology, Faculty of Medicine, Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. METHODS Six fetuses with prenatal

Antenatal-onset infantile cortical hyperostosis and nonimmune hydrops.

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Prijava / prijava

Infantile cortical hyperostosis antenatal onset is an uncommon disease characterized by polyhydramnios, anasarca or hydrops, pulmonary hypoplasia, hepatomegaly, bowed hyperostotic long bones, and a poor prognosis. Sonographically the intrauterine manifestations may be similar to those of

Cesarean delivery and colon resection in a patient with type III osteogenesis imperfecta.

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Prijava / prijava

OBJECTIVE. Osteogenesis imperfecta is a connective tissue disorder that results from the inability to produce normal collagen. Eight types are described; type II is considered the lethal variant. Because of abnormal collagen production, these patients possess many anatomic and functional

[Diagnostic and prognostic elements of non-immunologic feto-placental anasarca. Review of the literature apropos of 7 new cases].

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Prijava / prijava

Non immunologic hydrops fetalis (NIHF) is relatively more frequent now since prevention and treatment of blood incompatibilities are common. Seven cases of NIHF were observed between November 1984 and April 1987; antenatal diagnosis by ultrasound scanning was possible in six of these seven cases.

Descemet stripping automated endothelial keratoplasty for spontaneous descemet membrane detachment in a patient with osteogenesis imperfecta.

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Prijava / prijava

OBJECTIVE To report the first use of Descemet stripping automated endothelial keratoplasty (DSAEK) for spontaneous Descemet membrane detachment in a patient with osteogenesis imperfecta (OI), keratoconus, and acute bullous keratopathy. METHODS A case report of a 25-year-old man with OI and

Specific skeletal dysplasias in utero: sonographic diagnosis.

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Prijava / prijava

A retrospective study was performed of 13 short-limbed fetuses with lethal skeletal dysplasias that were evaluated with ultrasound (US) from 1981 to 1984. The specific diagnoses were thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or

Intrauterine diagnosis of short-limbed dwarfism.

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Prijava / prijava

Ten short-limbed fetuses caused by skeletal dysplasia were diagnosed prenatally from September 1984 through July 1988. The final diagnosis was thanatophoric dwarfism in 7 cases and osteogenesis imperfecta congenita in 3 cases. The diagnosis was based on sonographic findings in all cases and

New form of bone dysplasia with multiple fractures associated with monosomy X.

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Prijava / prijava

We report on the clinical, radiologic, and pathologic findings in a 20-week-old fetus with monosomy X and severe hydrops associated with fetal dwarfism. The fetus presented with osteoporosis, bent bones, multiple fractures, and distinctive symmetric submetaphyseal transverse bone interruptions or

Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.

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Prijava / prijava

An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X-rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed

[Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)].

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Prijava / prijava

In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

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Prijava / prijava

Objective: Conventional genetic tests (QF-PCR and SNP-array) only diagnose ~40% of fetuses showing ultrasound abnormalities. Rapid Exome Sequencing (rES) may improve this diagnostic yield, but includes challenges such as uncertainties in

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