syndactyly/edema

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Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature.

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OBJECTIVE To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography. METHODS Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC

Distally based venous flap: a new technique for the correction of syndactyly without skin graft in adult patients.

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Skin grafts and local flaps are conventional methods for repairing simple syndactyly. Skin grafts usually leave unsightly appearance and contracture formation. In this study, unipedicled distally based venous flap were raised from third or fourth metacarpal area of the hand for syndactyly treatment.

A case report of Turner syndrome associated with fetal nuchal cystic hygroma and bilateral syndactyly of the hands and feet.

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Turner syndrome (45,X), accounts for 1-2% of conceptions which typically miscarry early in the first trimester. Cases detected prenatally often present with cystic hygroma, which is an ultrasound marker for aneuploidy generally, but Turner syndrome particularly. In this study, we

Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome?

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A 25-year-old man is described with short stature, moderate mental retardation, an abnormal facial appearance, a webbed neck, skeletal abnormalities including proximal symphalangism of bilateral second through fifth fingers, mixed hearing loss, and slowly progressive, sclerosing nephropathy. He was

A new ectrodactyly syndrome?

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We report a fetus with hydrops, ectrodactyly, syndactyly, duplication of the great toes and several other features. From a review of the literature we suggest that this constellation of abnormalities has not previously been reported.

Ring chromosome 3 in a retarded boy.

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We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.

Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.

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We report a stillborn girl with a complex syndrome of microcephaly, lissencephaly, severe subcutaneous edema, atrophic muscles, camptodactyly, syndactyly of toes and fingers, hypoplastic genitalia, and numerous structural changes of the brain and eyes. Similar cases have been reported by Neu et al

Parental consanguinity in specific types of congenital anomalies.

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Parental consanguinity, as a recognized risk factor for congenital anomalies, has mainly been studied with a focus on the types of parental relationships and their effects on genetic syndromes or birth defects in general. The present work analyzed the association between parental consanguinity and

Increased postimplantation loss and malformations among the F2 progeny of male rats chronically treated with cyclophosphamide.

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Cyclophosphamide, administered to the male rat, produces increased pre- and postimplantation loss in the progeny as well as an increase in the numbers of malformed and growth retarded fetuses. The purpose of this study was to determine whether the adverse effects of chronic paternal cyclophosphamide

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

Coincidence of Poland's syndrome with Turner's syndrome.

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BACKGROUND Poland's syndrome (PS) is an inborn defect consisting in unilateral underdevelopment of the pectoralis major muscle, homolateral anomalies of upper extremity, as well as mammary gland aplasia. PS occurrence frequency is determined as 1:7000 to 1:100 000. Turner's syndrome (TS) results

Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

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Fraser syndrome (cryptophthalmos-syndactyly syndrome) is an autosomal recessive multiple malformation syndrome whose major manifestations are cryptophthalmos, syndactyly, laryngeal atresia and urogenital defects. Enlarged hyperechogenic lungs contrasted by oligohydramnios, non-visualization of the

Passive transfer of autoantibodies from a patient with mutilating epidermolysis bullosa acquisita induces specific alterations in the skin of neonatal mice.

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BACKGROUND Epidermolysis bullosa acquisita is a subepidermal bullous disease characterized by IgG autoantibodies directed against type VII collagen in anchoring fibrils. These autoantibodies are believed to play an important role in the pathogenesis of sub-lamina densa blister formation in this

Reconstruction of the burned hand.

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Several basic principles of burned hand care must be kept in mind at all times. Intervention should be early and aggressive, small splints should be placed within 24 hours, and early tangential excision of the burn should be done within 72 hours. Hemostasis should be absolutely meticulous prior to

Characteristics of the limb malformations induced by maternal exposure to cadmium in the mouse.

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Single doses of 2,3,4,6,8,10, and 15 mg/kg of cadmium chloride were administered (SC) to groups of MF1 mice on one of days 7 to 12 of gestation. Fetuses collected on day 18 were observed for limb malformations, and alizarin red-S stained skeletons were examined for their skeletal bases.

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