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polydactyly/отёк
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Familial occurrence of a short rib syndrome with hydrops fetalis but without polydactyly.
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Hydrops fetalis in the McKusick-Kaufman syndrome: a case report.
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McKusick-Kaufman syndrome is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos and polydactyly. We report on a patient with McKusick-Kaufman syndrome and severe hydrops. This case illustrates the necessity of genetic evaluations for all patients with unexplained
Beemer-Langer type short rib-polydactyly syndrome: report of two cases.
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Two sibs who died shortly after birth had multiple congenital anomalies that included hydrops, narrow thorax, short limbs, and absence of polydactyly; therefore short rib (polydactyly) syndrome Beemer-Langer type was suggested. We report these cases and discuss the differentiation with Majewski
Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation.
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Short-rib polydactyly dysplasia (SRP) is an autosomal recessive, lethal skeletal dysplasia. Sonographic assessment of subsequent pregnancies is, therefore, recommended. This case indicates that this diagnosis can be made in the latter part of the first trimester. A 30-year-old multigravid woman
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.
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A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst,
[Short rib-polydactyly syndromes].
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The authors report on a newborn which died only a few hours after birth. It manifested generalized dropsy and ascites, a central upper lip cleft, narrow thorax, severe dysraphia, short limbs but normal-length trunk, and brachydactyly. Particularly striking radiologic findings were the extremely
Short rib-polydactyly syndrome, Majewski type.
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A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial
Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.
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An 18-year-old gravida 1 para 0 female was presented at 35 weeks' gestation with severe oligohydramnios. Sonography revealed a fetus with hydrops, bilaterally enlarged echogenic kidneys, and short extremities. The infant died at birth and autopsy was compatible with short-rib polydactyly syndrome
Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome).
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Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly. SRPS is an inherited autosomal-recessive disorder with different prenatal sonographic and postnatal clinical, histological and radiologic
A short rib polydactyly syndrome overlapping both lethal and nonlethal types.
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Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented
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
Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?
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Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena-Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the
Fetal hydrops, associated with maternal propylthiouracil exposure, reversed by intrauterine therapy.
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Thyroid hormone is essential for fetal neurological development. Among other etiologies, fetal hypothyroidism may be caused by maternal exposure to antithyroid drugs (ATDs). The most common presentation of fetal hypothyroidism is fetal goiter, which can cause dystocia, in addition to airway
Nonimmunologic hydrops fetalis. A study of ten cases.
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Ten cases of hydrops fetalis not associated with serologic incompatibility between mother and infant were studied by autopsy. Classic trisomy 21 was present in two, and in six others the postmortem examination revealed major congenital abnormalities (hydrometrocolpos-polydactyly syndrome,
Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III).
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Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal
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