short rib polydactyly syndrome

Summary

Summary: A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Top Publications

  1. Elcioglu N, Hall C. Diagnostic dilemmas in the short rib-polydactyly syndrome group. Am J Med Genet. 2002;111:392-400 pubmed
  2. Wu M, Kuo P, Lin S. Prenatal diagnosis of recurrence of short rib-polydactyly syndrome. Am J Med Genet. 1995;55:279-84 pubmed
    ..The last male baby also had a similar but variable expression in prenatal ultrasonography...
  3. Nair V, Prakash K, Bhat B. Short rib polydactyly syndrome - type 2 (Majewski). Indian J Pediatr. 2007;74:1029-31 pubmed
    ..It is characterized by the triad of micromelia, polydactyly and short horizontal ribs with or without visceral involvement. We report a case of SRPS-2 in a fresh stillborn and discuss the differential diagnosis...
  4. Durán I, Taylor S, Zhang W, Martin J, Forlenza K, Spiro R, et al. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep. 2016;6:34232 pubmed publisher
    ..These findings demonstrate the importance of IFT81 in the skeleton, its role in the anterograde transport complex, and expand the number of loci associated with SRPS. ..
  5. Knapp C, Santin Hodges A, Cole R. Laryngeal findings in short rib polydactyly syndrome: case report and embryological correlations. Laryngoscope. 1990;100:579-82 pubmed
    b>Short Rib Polydactyly Syndrome (SRPS) is a group of rare congenital disorders characterized by polydactyly, short limbs, and short ribs...
  6. Antony D, Nampoory N, Bacchelli C, Melhem M, Wu K, James C, et al. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. Eur J Med Genet. 2017;60:658-666 pubmed publisher
    ..This research study highlights the importance of including pathogenic variant identification in the diagnosis pipeline of ciliary chondrodysplasias, especially for clinically not fully defined phenotypes. ..
  7. Den Hollander N, van der Harten H, Laudy J, van de Weg P, Wladimiroff J. Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases. Ultrasound Obstet Gynecol. 1998;11:298-302 pubmed
    ..There are often associated defects, particularly neural-tube anomalies. The occurrence of consanguinity and of four affected siblings in this family support autosomal recessive inheritance. ..
  8. Shindel B, Wise S. Recurrent short rib-polydactyly syndrome with unusual associations. J Clin Ultrasound. 1999;27:143-6 pubmed
    ..Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cystic hygroma and choroid plexus cysts suggests a chromosomal abnormality such as trisomy 18. ..
  9. Gholkar A, Senese S, Lo Y, Capri J, Deardorff W, Dharmarajan H, et al. Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis. Cell Cycle. 2015;14:1116-25 pubmed publisher
    ..We propose that Tctex1d2 is a novel dynein light chain important for trafficking to the cilium and potentially retrograde IFT and is a new molecular link to understanding SRPS pathology. ..

More Information

Publications82

  1. Kovacs N, Sárkány I, Mohay G, Adamovich K, Ertl T, Kosztolanyi G, et al. High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. Am J Med Genet A. 2006;140:2816-8 pubmed
  2. Piane M, Della Monica M, Piatelli G, Lulli P, Lonardo F, Chessa L, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am J Med Genet A. 2009;149A:2452-6 pubmed publisher
    ..PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested...
  3. Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, et al. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. Am J Hum Genet. 2015;97:311-8 pubmed publisher
    ..Our data show the crucial role of KIAA0586 in human primary ciliogenesis and subsequent abnormal hedgehog signaling through abnormal GLI3 processing. Our results thus establish that KIAA0586 mutations cause lethal ciliopathies. ..
  4. Chen L, Shi S, Zou P, Ma M, Chen X, Cao D. Identification of novel DYNC2H1 mutations associated with short rib-polydactyly syndrome type III using next-generation panel sequencing. Genet Mol Res. 2016;15: pubmed publisher
    ..These variants were further confirmed using Sanger sequencing and have not been previously reported. Our study indicates the utility of using next-generation panel sequencing in screening for novel disease-associated mutations. ..
  5. Chen C, Ko T, Chang T, Chern S, Chen S, Lai S, et al. Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. Taiwan J Obstet Gynecol. 2018;57:123-127 pubmed publisher
    ..Targeted NGS is useful in genetic diagnosis of fetal skeletal dysplasia and SRPS, and the information acquired is helpful in genetic counseling. ..
  6. Taori K, Sharbidre K, Krishnan V, Kundargi N, Kulkarni B, Satkar V, et al. Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report. J Clin Ultrasound. 2009;37:406-9 pubmed publisher
    b>Short rib polydactyly syndrome (SRPS) is a very rare congenital autosomal recessive inherited disease, classified into four subtypes...
  7. Cideciyan D, Rodriguez M, Haun R, Abdenour G, Bruce J. New findings in short rib syndrome. Am J Med Genet. 1993;46:255-9 pubmed
  8. Young L, Wilhelm L, Zuppan C, Clark R. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome. Pediatr Radiol. 2001;31:31-5 pubmed
    ..We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II)...
  9. Nishimura G, Harigaya A, Kuwashima M, Kuwashima S. Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-like syndrome. Am J Med Genet. 1997;71:87-92 pubmed
    ..The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome. ..
  10. Sillence D, Kozlowski K, Bar Ziv J, Fuhrumann Rieger A, Fuhrmann W, Pascu F. Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes. Pediatr Radiol. 1987;17:474-80 pubmed
  11. Mortier G, Rimoin D, Lachman R. The scapula as a window to the diagnosis of skeletal dysplasias. Pediatr Radiol. 1997;27:447-51 pubmed
  12. Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Bárta T, Trantirek L, et al. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet. 2016;25:3998-4011 pubmed publisher
    ..These data identify ICK as an SRPS-associated gene and reveal that abnormalities in signalling pathways contribute to defective skeletogenesis. ..
  13. Tuncer O, Caksen H, Kirimi E, Kosem M, Oral H, Atas B, et al. Short rib-polydactyly syndrome type I associated with a single umbilical artery. Genet Couns. 2004;15:101-2 pubmed
  14. Balci S, Altinok G, Teksen F, Eryilmaz M. A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. Turk J Pediatr. 2003;45:174-8 pubmed
    ..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. ..
  15. Lee K, Lee J, Chay D, Lee S, Cho S, Kim B, et al. Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester. J Korean Med Sci. 2006;21:165-8 pubmed
    ..This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies...
  16. Chen H, Mirkin D, Yang S. 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. Am J Med Genet. 1994;53:165-71 pubmed
  17. Viora E, Sciarrone A, Bastonero S, Errante G, Botta G, Campogrande M. Three-dimensional ultrasound evaluation of short-rib polydactyly syndrome type II in the second trimester: a case report. Ultrasound Obstet Gynecol. 2002;19:88-91 pubmed
    ..The contribution and potential application of three-dimensional sonography in the prenatal diagnosis of short-rib polydactyly syndrome and other fetal skeletal malformations is discussed...
  18. Myong N, Park J, Chi J. Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. J Korean Med Sci. 1998;13:201-6 pubmed
    ..Histologic sections of the vertebrae disclosed abnormal enchondral ossification with irregular and retarded hypertrophic zone...
  19. Dugoff L, Coffin C, Hobbins J. Sonographic measurement of the fetal rib cage perimeter to thoracic circumference ratio: application to prenatal diagnosis of skeletal dysplasias. Ultrasound Obstet Gynecol. 1997;10:269-71 pubmed
    ..After further evaluation, this technique may prove to be of clinical significance in helping to diagnose skeletal dysplasias, particularly in cases where the gestational age is uncertain...
  20. Hentze S, Sergi C, Troeger J, Revell P, Otto H, Tariverdian G. Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities. Am J Med Genet. 1998;80:281-5 pubmed
    ..The histological analysis in this case supports a close relationship between types Saldino-Noonan and Verma-Naumoff-Le Marec...
  21. Chen C, Chang T, Tzen C, Wang W. Second-trimester sonographic detection of short rib-polydactyly syndrome type II (Majewski) following an abnormal maternal serum biochemical screening result. Prenat Diagn. 2003;23:353-5 pubmed
  22. Naki M, Gur D, Zemheri E, Tekcan C, Kanadikirik F, Has R. Short rib-polydactyly syndrome. Arch Gynecol Obstet. 2005;272:173-5 pubmed
    ..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...
  23. Baujat G, Le Merrer M. Ellis-van Creveld syndrome. Orphanet J Rare Dis. 2007;2:27 pubmed
    ..Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict...
  24. Merrill A, Merriman B, Farrington Rock C, Camacho N, Sebald E, Funari V, et al. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet. 2009;84:542-9 pubmed publisher
    ..These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth...
  25. Vanhoenacker F, Van de Perre S, De Jongh K, De Schepper A. Asphyxiating thoracic dysplasia. JBR-BTR. 2004;87:50 pubmed
  26. Sridhar S, Kishore R, Thomas N, Jana A. Short rib polydactyly syndrome-Type I. Indian J Pediatr. 2004;71:359-61 pubmed
    b>Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities...
  27. de Sierra T, Ashmead G, Bilenker R. Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus. Am J Med Genet. 1992;44:555-7 pubmed
    ..The sonographic and radiographic features are discussed. The patient had complete situs inversus and hypospadias. The former was reported in one other case of type III and the later has not been previously reported in this entity...
  28. Montemarano H, Bulas D, Chandra R, Tifft C. Prenatal diagnosis of glomerulocystic kidney disease in short-rib polydactyly syndrome type II, Majewski type. Pediatr Radiol. 1995;25:469-71 pubmed
    ..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...
  29. Hofmann D, Hofmann U, Hecker W. [Clinical aspects and problems in thoracic dystrophy]. Klin Padiatr. 1989;201:405-8 pubmed
    ..We overview the literature and line out our opinion about the indication for surgical enlargement of the thorax in children with Jeune syndrome...
  30. Lurie I. Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs. Am J Med Genet. 1994;50:313-7 pubmed
    ..The specific type of tibial defect seems to be the most important discrimination of the MS and the BLS...
  31. Sharma A, Phadke S, Chandra K, Upreti M, Khan E, Naveed M, et al. Overlap between Majewski and hydrolethalus syndromes: a report of two cases. Am J Med Genet. 1992;43:949-53 pubmed
    ..It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes...
  32. Moerman P, Fryns J. Oral-facial-digital syndrome type IV (Mohr-Majewski syndrome): a fetopathological study. Genet Couns. 1998;9:39-43 pubmed
    ..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).
  33. Hall J, Flora C, Scott C, Pauli R, Tanaka K. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A. 2004;130A:55-72 pubmed
    ..These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family...
  34. Alanay Y, Krakow D, Rimoin D, Lachman R. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet A. 2007;143A:1159-68 pubmed
    ..This study aims to provide differential diagnosis of entities to be considered when a fetus or newborn is found to have congenital bowing/angulation of the femur...
  35. Tsai Y, Chang J, Changchien C, Eng H, Chen W, Lui C, et al. Unusual short rib-polydactyly syndrome. Am J Med Genet. 1992;44:31-6 pubmed
    ..A nosologic discussion is presented. To our knowledge, situs inversus totalis, as in our case, has not been described before in any SRPS...
  36. Brenner R, Nerlich A, Kirchner F, Mörike M, Terinde R, Teller W. Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer. Am J Med Genet. 1993;46:584-91 pubmed
    ..All collagen chains including CNBr-peptides of collagen II showed normal migration in PAA gel electrophoresis...
  37. Erzen M, Stanescu R, Stanescu V, Maroteaux P. Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia. Ann Genet. 1988;31:144-50 pubmed
    ..These data suggest that there is a relationship between chondroectodermal dysplasia and SPR type I, and that SRP type III is distinct from SRP type I...
  38. Yang S, Langer L, Cacciarelli A, Dahms B, Unger E, Roskamp J, et al. Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Am J Med Genet Suppl. 1987;3:191-207 pubmed
  39. Slaney S, Sprigg A, Davies N, Hall C. Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus. Pediatr Radiol. 1999;29:835-7 pubmed
    ..This condition is most likely caused by either an autosomal recessive or X-linked recessive gene...
  40. Franceschini P, Guala A, Vardeu M, Signorile F, Franceschini D, Bolgiani M. Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet. 1995;59:359-64 pubmed
    ..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...
  41. Dutton R. A practical radiologic approach to skeletal dysplasias in infancy. Radiol Clin North Am. 1987;25:1211-33 pubmed
    ..This accumulated knowledge, as well as newer methods of antenatal detection, has significantly heightened the general interest in these disorders...
  42. Prudlo J, Stoltenburg Didinger G, Jimenez E, Cervós Navarro J. Central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type. Dev Med Child Neurol. 1993;35:158-62 pubmed
    ..These findings are discussed with reference to the literature...
  43. Steichen Gersdorf E, Gassner I, Covi B, Fischer H. Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea. Clin Dysmorphol. 1994;3:245-50 pubmed
    ..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...
  44. Garcia H, Drescher H, Kuchelmeister K, Lenz W, Roessner A. [Short rib-polydactyly syndromes]. Klin Padiatr. 1988;200:140-4 pubmed
  45. Winter R. A lethal short rib syndrome without polydactyly. J Med Genet. 1988;25:349-50 pubmed
    ..A female infant is described with a lethal short rib syndrome, similar to a form of short rib-polydactyly syndrome but without polydactyly. It is felt that this infant has the same condition as that described by Beemer et al...
  46. Corsi A, Riminucci M, Roggini M, Bianco P. Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype. Pediatr Dev Pathol. 2002;5:91-6 pubmed
    A morphological study of the skeletal system in a case of short rib polydactyly syndrome type III (SRPS-III) documented a "bajonet" deformity of the ribs for misalignment and overlap of cartilaginous and bony ends...
  47. Chen C, Chang T, Tzen C, Lin C, Wang W. Sonographic detection of situs inversus, ventricular septal defect, and short-rib polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus not known to be at risk. Ultrasound Obstet Gynecol. 2002;19:629-31 pubmed
  48. Taylor A, Jones R, Offiah A, Olsen O, Sebire N. Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. Ultrasound Obstet Gynecol. 2006;27:585-6 pubmed
  49. Lavanya R, Pratap K. Short rib polydactyly syndrome--a rare skeletal dysplasia. Int J Gynaecol Obstet. 1995;50:291-2 pubmed
    We present a case of prenatal ultrasonographic diagnosis of short rib polydactyly syndrome (SRPS). The fetus had severe oligohydramnios due to bilateral renal agenesis...
  50. Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet. 2009;84:706-11 pubmed publisher
    ..ATD is closely related to the short rib polydactyly syndrome (SRP) type III, which is a more severe condition characterized by early prenatal expression and ..
  51. Keating S, Eyre D, Pritzker K. Short rib polydactyly syndrome type I: an autopsy approach to diagnosis of chondrodysplasias. Mod Pathol. 1989;2:427-32 pubmed
    ..Following examination of two siblings with short rib polydactyly syndrome (SRPS) type I, we undertook to analyze the main problems in clinical pathological classification of ..
  52. Chen C, Shih J, Tzen C, Lin Y, Wang W. Recurrent short-rib polydactyly syndrome: prenatal three-dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia. Prenat Diagn. 2005;25:417-8 pubmed
  53. Balci S, Erçal M, Onol B, Caglar M, Dogan A, Dogruel N. Familial short rib syndrome, type Beemer, with pyloric stenosis and short intestine, one case diagnosed prenatally. Clin Genet. 1991;39:298-303 pubmed
    ..Both patients had previously unreported additional abnormalities such as pyloric stenosis and short bowels. Dysplasia of pancreatic Langerhans cells was present in one sib...
  54. Yang S, Roth J, Langer L. Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome. Am J Med Genet. 1991;39:243-6 pubmed
    ..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...
  55. Wilke A, Schmoll J. [Typical complications of short rib polydactyly syndrome]. Klin Padiatr. 1994;206:112-5 pubmed
    ..We describe the case of a female child which suffered from a short rib-polydactyly-syndrome, a localised form of a osteo-chondrodysplasia, and died at the age of nine months as a result of the typical complications of this disease...
  56. Martínez Frías M, Bermejo E, Urioste M, Egues J, López Soler J. 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?. Am J Med Genet. 1993;47:782-7 pubmed
    ..Molecular studies may answer this question in the near future...
  57. al Gazali L, Sztriha L, Dawodu A, Varady E, Bakir M, Khdir A, et al. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. J Med Genet. 1999;36:461-6 pubmed
    ..Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes...
  58. Vujanic G, Hunt N. New case of Beemer-Langer syndrome. Pediatr Dev Pathol. 2000;3:281-5 pubmed
    ..This case also showed some less frequently described anomalies, including arachnoid cysts of the brain and short intestines...
  59. Bober M, Khan N, Kaplan J, Lewis K, Feinstein J, Scott C, et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A. 2010;152A:960-5 pubmed publisher
    ..Emergent evaluation is also needed when other neurologic or cardiac symptoms are present...
  60. Elcioglu N, Karatekin G, Sezgin B, Nuhoglu A, Cenani A. Short rib-polydactyly syndrome in twins: Beemer-Langer type with polydactyly. Clin Genet. 1996;50:159-63 pubmed
    ..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...
  61. Yamaguchi K, Shimizu K, Suzumura H. Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. Clin Neuropathol. 2006;25:128-33 pubmed
    ..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...
  62. Kumru P, Aka N, Köse G, Vural Z, Peker O, Kayserili H. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Fetal Diagn Ther. 2005;20:410-4 pubmed
    b>Short rib polydactyly syndrome (SRPS) is a group of skeletal dysplasias manifested by short-limb dwarfism, short ribs with thoracic dysplasia and polydactyly...
  63. Lungarotti M, Martello C, Marinelli I, Falasca L. Lethal short rib syndrome of the Beemer type without polydactyly. Pediatr Radiol. 1993;23:325-6 pubmed
    ..The clinical variability related to the lack or presence of polydactyly is underlined, together with the importance of prenatal diagnosis...
  64. Kannu P, McFarlane J, Savarirayan R, Aftimos S. An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings. Am J Med Genet A. 2007;143A:2607-11 pubmed
    ..Whether these two cases should be considered an atypical form of SRP cannot be completely resolved at this present time and will need to wait on further progress in molecular testing...
  65. Meizner I, Bar Ziv J. Prenatal ultrasonic diagnosis of short rib polydactyly syndrome, type I. A case report. J Reprod Med. 1989;34:668-72 pubmed
    A case of short rib polydactyly syndrome, type I, was diagnosed in utero with ultrasound. An accurate diagnosis is essential to proper management and genetic counseling.
  66. Verma A. Short rib polydactyly syndrome type I (Saldino-Noonan syndrome). Indian Pediatr. 2005;42:389 pubmed
  67. Gruber H, Lachman R, Rimoin D. Calcospherite (calcification nodule) size in the short rib polydactyly syndromes. Scanning Microsc. 1990;4:775-80 pubmed
    ..9 +/- 1.16 x 10(-6) mm2 (7), p = .001). This difference in calcospherite size adds a further differentiating feature between these two dysplasias...
  68. Urioste M, Martínez Frías M, Bermejo E, Jimenez N, Romero D, Nieto C, et al. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. Am J Med Genet. 1994;49:94-7 pubmed
    ..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...
  69. Hennekam R. Short rib syndrome--Beemer type in sibs. Am J Med Genet. 1991;40:230-3 pubmed
    ..The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. Molecular biology may eventually prove whether the 2 conditions are truly separate entities or not...
  70. Lin A, Doshi N, Flom L, Tenenholz B, Filkins K. Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome. Am J Med Genet. 1991;39:247-51 pubmed
    ..Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders...
  71. Turkmen M, Temocin K, Acar C, Levi E, Karaman C, Inan G, et al. Short rib-polydactyly syndrome: a case report. Turk J Pediatr. 2003;45:359-62 pubmed
    ..We report an infant whose radiological, clinical and postmortem features were consistent with type IV SRPS (Beemer-Langer)...
  72. Golombeck K, Jacobs V, von Kaisenberg C, Oppermann H, Reinecke Lüthge A, Weisner D, et al. Short rib-polydactyly syndrome type III: comparison of ultrasound, radiology, and pathology findings. Fetal Diagn Ther. 2001;16:133-8 pubmed
    ..Radiological and pathological findings confirmed SRPS type III and assisted in the differential diagnosis of the subtype...
  73. Takamine Y, Krejci P, Mekikian P, Wilcox W. Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. Am J Med Genet A. 2004;130A:96-7 pubmed