osteochondrodysplasias/bjúgur

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Congenital osteochondrodysplasia with systemic subcutaneous edema (ocd/ocd): a new lethal autosomal recessive mutant of the rat.

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The inheritance of a new lethal mutant rate showing congenital osteochondrodysplasia with systemic subcutaneous edema (ocd for the gene symbol) was examined by crossings between the carriers and between F1s derived from the carrier x Long-Evans crossing. The ratio of the affected to phenotypically

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.

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A second pregnancy of young, nonconsanguineous parents of Macedonian ethnic origin was examined by ultrasound. Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck. An artificial abortion was performed at the age of 23 weeks. The

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.

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An offspring of consanguineous parents of East-Indian origin was found prenatally to have hydrops fetalis, short limb dwarfism, polydactyly and chondro-osseous changes consistent with Greenberg hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) dysplasia. The radiological changes

Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat.

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Homozygous rats (ocd/ocd) of a mutant inbred strain, OCD (osteochondrodysplasia), show osteochondrodysplasia, systemic edema, cleft palate, protruding tongue, disproportionate dwarfism, and lethality immediately after birth. Their epiphyses show decreased levels of glycosaminoglycans and weak

A new autosomal recessive lethal chondrodystrophy with congenital hydrops.

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Two sibs, the offspring of consanguineous parents, presented with severe short-limb dwarfism and distinct chondro-osseous, radiologic, and histologic appearance. The first sib presented at 30 wk with severe hydrops following fetal death; the second was detected by ultrasonography at 20 wk.

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: the Upsilon sign.

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We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal onset skeletal dysplasias, and to suggest a new

Non-immune hydrops fetalis as a diagnostic and survival problems: what do we tell the parents?

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OBJECTIVE Nonimmune hydrops fetalis (NIHF) is one of the most difficult problems related to pregnancy. The aim of this study was to evaluate the etiological analysis as well as the fetal and neonatal outcomes of NIHF. METHODS We reviewed the prenatal sonographic data and postnatal medical records of

Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo.

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We describe the first Congolese case of Greenberg Skeletal Dysplasia. Were noted at birth a congenital hydrops, a chondrodystrophy, a severe hypoplastic face as well as an ulnar (postaxial) hexadactyly on all four limbs.

Specific skeletal dysplasias in utero: sonographic diagnosis.

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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

A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.

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We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child

Genetic causes of hydrops fetalis.

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A series of 1790 fetal and neonatal autopsies performed between 1976 and 1988 were retrospectively investigated for the presence of hydrops. Thirty (5.5%) and 35 (2.8%) cases of hydrops were found in the groups of fetal and neonatal autopsies, respectively. Genetic causes accounted for 35%. A

Nonimmune hydrops fetalis associated with genetic abnormalities.

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The purpose of this review of the literature on nonimmune hydrops fetalis was to evaluate whether recent clinicopathologic studies have modified the relative incidence of the different associated conditions and the management of these pregnancies. We found 600 cases of nonimmune hydrops fetalis

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

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Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include

Extending the phenotype of lethal skeletal dysplasia type al Gazali.

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In this study, we describe the clinical and radiological phenotype of two patients with a rare skeletal dysplasia type al Gazali. The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with

A histological and histochemical study on glycosaminoglycans in epiphysial cartilage of osteochondrodysplasia rat (OCD/OCD).

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The osteochondrodysplasia rat, inherited by a single autosomal recessive lethal gene ocd, shows a typical dwarfing syndrome with systemic subcutaneous edema. The skeletal system is most severely affected. The affected neonates are associated with cleft palate, abnormal kidney position and central

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