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41/48. Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.

    The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second-trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21-year-old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short-rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non-lethal anomalies.
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42/48. Short rib polydactyly syndrome--a rare skeletal dysplasia.

    We present a case of prenatal ultrasonographic diagnosis of short rib polydactyly syndrome (SRPS). The fetus had severe oligohydramnios due to bilateral renal agenesis. Amnioinfusion with normal saline improved ultrasound visualization and helped in confirming the diagnosis. Subtypes and differential diagnosis of SRPS are discussed.
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43/48. Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.

    We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region.
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44/48. short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly.

    We present premature female twin fetuses with concordant extremely shortened ribs, short limbs, macrocephaly, median cleft upper lip and facial dysmorphism. Based on radiological criteria and the pattern of associated abnormalities, a lethal short rib-polydactyly syndrome (Beemer-Langer type) was diagnosed. The differential diagnosis of this entity is discussed.
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keywords = short rib-polydactyly syndrome, rib-polydactyly syndrome, short rib-polydactyly, rib-polydactyly, short
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45/48. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study.

    We present a 22-week male fetus with cleft lip and palate, lobulated tongue, talipes equinovarus, and polysyndactyly. In addition there was skeletal dysplasia with micromelia and short ribs. autopsy revealed a cardiac anomaly (perimembranous VSD), very incomplete lobation of the lungs, mild congenital hepatic fibrosis, and segmental renal cystic dysplasia. brain anomalies included internal hydrocephalus, olfactory aplasia, and agenesis of the corpus callosum. This constellation of multiple congenital anomalies is consistent with the oral-facial-digital syndrome (OFDS) type IV. OFDS type IV may be a heterogeneous condition. Our pathological findings confirm that at least some of these cases a transitional phenotype between OFDS type II (Mohr syndrome) and short rib polydactyly syndrome type II (Majewski syndrome).
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46/48. Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case.

    short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old female fetus. She was born dead to a 28 year old mother, showing a hydropic change, narrow thorax, and shortened limbs with postaxial heptasyndactyly of both hands and feet. Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality. Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava. In addition this case had bilateral huge polycystic renal dysplasia that was seldom described in any type of SRPS. Histologic sections of the vertebrae disclosed abnormal enchondral ossification with irregular and retarded hypertrophic zone.
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keywords = rib-polydactyly syndrome, rib-polydactyly, short
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47/48. Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.

    Up to seven short-rib-polydactyly (SRP) syndromes have been identified so far with marked clinical and pathological overlap. We describe a 32-week-old, nonhydropic male fetus with thoracic "dysplasia," short limbs, and unilateral postaxial polydactyly. All internal organs were normally developed, including the central nervous system. The external genitalia were unambiguously male, in accordance with a 46,XY karyotype. Radiological signs most closely resembled those of SRP, type Le Marec, though histology of the femoral physeal growth zone was consistent with the Saldino-Noonan type. The remarkable lack of visceral anomalies in conjunction with the radiological and histological findings further adds to the phenotypic spectrum of the SRP syndromes. The histological analysis in this case supports a close relationship between types Saldino-Noonan and Verma-Naumoff-Le Marec.
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keywords = rib-polydactyly syndrome, rib-polydactyly, short
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48/48. Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation.

    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 presented at 13 weeks' gestation for an ultrasound examination. She had had a termination of pregnancy for a fetus with pathologically confirmed short-rib polydactyly dysplasia, type I (Saldino-Noonan). On transvaginal sonography, a narrow chest, symmetrical micromelia, polydactyly and anasarca were present. An autopsy confirmed recurrent SRP. Short-rib polydactyly dysplasia may be diagnosed with transvaginal sonography in the first trimester.
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