| The Majewski type of short rib-polydactyly syndrome is a rare lethal dwarfism syndrome that has recently been recognized as a distinct entity. The full range of associated anomalies remains to be described. This case report details the clinical and autopsy findings in this condition and reviews the differential diagnosis of polydactylous dwarfing syndromes. ( info) |
32/50. 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. ( info) |
| We describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants with short rib-polydactyly syndrome (SRPS). Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death after birth were noted in the first affected male baby. The affected female twins were detected prenatally by ultrasonography and had the same characteristics, but milder than the previous one. Serial measurements of the thoracic circumference and the 4 limbs were obtained by ultrasound, and showed progressively decreased ratio of thoracic to abdominal circumference and shortness of the limbs. The last male baby also had a similar but variable expression in prenatal ultrasonography. ( info) |
34/50. De novo 17q paracentric inversion mosaicism in a patient with Beemer-Langer type short rib-polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes. A de novo 17q paracentric inversion mosaicism is detected in a fetus with type IV short rib (polydactyly) syndrome (Beemer-Langer). The cytogenetic finding in our case suggests a possible location of the gene or cluster of linked genes responsible for SR (P) S type IV to 17q21 or 17q23. Since this chromosome abnormality has not been described in short rib polydactyly syndromes and the existence of type IV SR (P) S has been controversial, the literature of this entity is reviewed with special consideration to the classification of short rib polydactyly syndromes. ( info) |
| We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. ( info) |
36/50. Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea. We present a female patient with laryngeal anomalies, tracheostenosis and pre- and postaxial polydactyly. Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome. Three similar cases of OFD syndrome with hypoplasia of the larynx, epiglottis and/or trachea without tibial dysplasia have been previously reported by Silengo and Temtamy and McKusick. The present patient adds one more case to this group of variants of OFD syndrome. We believe that those cases may be considered to form a separate subentity of OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult. ( info) |
37/50. short rib-polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: a new type of SRPS or a more severe expression of a known SRPS entity? We describe two patients with short rib-polydactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS. It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future. ( info) |
38/50. Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer. We report on a case of lethal short-limbed skeletal dysplasia with extremely short ribs, median cleft upper lip and palate, malrotation of intestine, lung hypoplasia with bilateral segmentation defect, atrial septum defect, union of distal urethra and vagina, and complex brain malformations. Based on radiological criteria and the pattern of associated abnormalities a short rib syndrome without polydactyly (Type Beemer) was diagnosed. Morphologically, the growth plate showed a reduced proliferation zone and an enlarged zone of hypertrophic cartilage. In addition, islands of persistent hypertrophic cartilage were present even in the metaphysis. In monolayer cell cultures supplemented with 10% fetal calf serum proliferation was normal in articular chondrocytes, reduced in costal chondrocytes, and elevated in osteoblasts from the patient. Clonal growth of costal and articular chondrocytes in methylcellulose could be stimulated normally by insulin-like growth factor-I (IGF-I), IGF-II, and human growth hormone (hGH). However, the response to transforming growth factor beta 1 (TGF-beta 1) was markedly elevated in articular chondrocytes of the patient compared to those of 3 fetal controls. Quantitative collagen synthesis in both osteoblasts and chondrocytes from the patient did not differ significantly from that of controls. osteoblasts synthesized predominantly collagen I and minor amounts of collagen III, chondrocytes synthesized primarily collagen II. All collagen chains including CNBr-peptides of collagen II showed normal migration in PAA gel electrophoresis. ( info) |
39/50. Lethal short rib syndrome of the Beemer type without polydactyly. A new case of Beemer short-rib dwarfism is reported and the clinical and radiological differences between this and Majewski type are discussed. The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis. ( info) |
40/50. central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type. The authors present a case of CNS abnormalities in a female newborn infant with Majewski syndrome. On examination the gyri were found to be normal, but there was narrowing of the corpus callosum and fornix, and dilated ventricles. A vermis hypoplasia and an arachnoid cyst were found between the cerebellar hemispheres. Cross-section of the cervical and thoracic segments revealed a flattened spinal cord in the sagittal section. There were reactive astrocytes and heterotopic ganglion cells in the white matter and isolated hypoxically damaged nerve-cells in the subiculum and nuclear masses of the brainstem. These findings are discussed with reference to the literature. ( info) |