1/13. New case of Beemer-Langer syndrome.We present the case of a male infant born at 37 weeks gestation with multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. We believe that this represents a further case of the Beemer-Langer syndrome, a relatively recently described form of lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intestines.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/13. short rib-polydactyly syndrome type III: comparison of ultrasound, radiology, and pathology findings.short rib-polydactyly syndrome (SRPS; types I-IV) is an autosomal recessive, lethal skeletal dysplasia characterized by short-limb dysplasia, narrow thorax, and polydactyly. This syndrome is invariable and can be detected by 2-trimester ultrasound. The underlying gene has not been discovered yet. We report a case of SRPS subtype III Verma-Naumoff-Le Marec that was sonographically detected at 20 weeks' gestation and compare prenatal ultrasound with postmortem findings from pathology and radiology. Since the risk of recurrence is 25%, early ultrasound for consecutive pregnancies was advised and performed at 11 6 weeks' gestation in the following pregnancy without any findings. Ultrasound diagnosis in this rare case of SRPS is a valuable tool for identification and early management, since there are no specific biochemical or histopathological markers for this syndrome. Radiological and pathological findings confirmed SRPS type III and assisted in the differential diagnosis of the subtype.- - - - - - - - - - ranking = 2.0561769904084keywords = gestation, pregnancy (Clic here for more details about this article) |
3/13. A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.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, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old healthy daughter was alive. We believe these findings will be helpful in the differential diagnosis of further lethal skeletal dysplasia cases.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
4/13. short rib-polydactyly syndrome.INTRODUCTION: short rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by short limb dwarfism, short ribs with thoracic hypoplasia, polydactyly, and multiple anomalies of major organs. CASE REPORT: We report a case of SRPD subtype II (Majewski) that was detected in the 36th week of gestation, showing hydropic change, narrow thorax, shortened limbs, protuberant abdomen, micromelia, polydactyly and extremely low set ears, depressed nasal bridge, and cleft palate. The family was informed of the fatal outcome of the condition. Delivery was induced, and the baby died just after the birth. DISCUSSION: prenatal diagnosis is established with postmortem radiographic and pathologic examinations.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
5/13. Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester.Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies.- - - - - - - - - - ranking = 2.0561769904084keywords = gestation, pregnancy (Clic here for more details about this article) |
6/13. short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant.This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS type I (Saldino-Noonan type). General autopsy findings included situs inversus, persistent truncus arteriosus and endocardial cushion defect, hypoplastic lungs and adrenal glands, and vaginal atresia. Fixed brain weight was 330 g. Three different categories of pathological changes were detected in the brain. These were as follows: (1) multiple cyst formation in the parenchyma, (2) primary malformations of the nervous and mesenchymal tissues, and (3) deposition of an unusual substance in the cerebral white matter. The multiple cysts or cavities in the parenchyma may be due to severe hypoxic-ischemic insults related to the congenital heart anomaly. The primary malformations were summarized as follows: (1) capillary telangiectasia of the pia mater and choroid plexus, (2) olfactory dysplasia with asymmetry, (3) focal cortical dysplasia in the frontal lobe and cerebellum, (4) olivary dysplasia, and (5) enlargement of the posterior part of the lateral ventricle. Dysplastic changes of the nervous tissue can be classified into the group of neuronal migration disorders. Although biochemical properties of the unknown substance were not determined, it is considered to be some product derived from an inborn error of metabolism. Morphological data of SRPS is still scarce, and pathognomonic changes have not yet been elucidated. The present data suggests that coexistence of the nervous and mesenchymal malformations may be highly characteristic of SRPS.- - - - - - - - - - ranking = 5keywords = gestation (Clic here for more details about this article) |
7/13. Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.A male fetus with short rib (polydactyly) syndrome, Beemer-Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discussed.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
8/13. Early prenatal diagnosis of short rib-polydactyly (SRP) syndrome type I (Majewski) by ultrasound in a case at risk.Short rib-polydactyly (SRP) syndrome Type I was diagnosed accurately in an at-risk fetus at 16 weeks of gestation by real-time sonography. The most important findings were a narrow thorax, significant shortening of the long bones, particularly the tibiae, and--by directed search--the polydactyly.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
9/13. short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.Four cases of lethal short rib-polydactyly syndrome (SRPS) from three non-consanguineous families are described. Radiological features were similar in all four cases and were most consistent with type III SRPS (Verma-Naumoff syndrome), but many differences in external and systemic abnormalities were noted. The considerable overlap of supposedly distinctive features displayed by the three main forms of SRPS is suggestive of a single locus mutation with variable expressivity, particularly for types I and III, possibly related to different mutant alleles and secondary intrauterine modification of the phenotype. All four cases showed anomalous sexual development. In spite of testicular differentiation in all four and a 46, XY karyotype in the two on whom chromosome studies were done, two infants were phenotypic females and two had ambiguous genitalia. A definitive diagnosis of SRPS was made at 26 weeks' gestation in a pregnancy at risk.- - - - - - - - - - ranking = 1.0561769904084keywords = gestation, pregnancy (Clic here for more details about this article) |
10/13. prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type.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 type II, Majewski type. Renal histology was consistent with glomerulocystic disease.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
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