Literature DB >> 8301649

Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

M L Martínez-Frías1, E Bermejo, M Urioste, H Huertas, I Arroyo.   

Abstract

We report two new unrelated infants with short rib-polydactyly syndrome (SRPS) whose clinical and radiological features overlap the four established forms of lethal SRPS, so that it is difficult to classify them into any one particular type. One of the babies had one of the most radiologically severe SRPS ever published. The patients presented here support the previously reported hypothesis that this group of disorders might be a continuous spectrum rather than separate entities.

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Year:  1993        PMID： 8301649      PMCID： PMC1016603          DOI： 10.1136/jmg.30.11.937

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

Review 1.  An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.

Authors:  I C Verma; S Bhargava; S Agarwal
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Overlap between Majewski and hydrolethalus syndromes: a report of two cases.

Authors:  A K Sharma; S Phadke; K Chandra; M Upreti; E M Khan; M Naveed; S S Agarwal
Journal:  Am J Med Genet       Date:  1992-08-01

Review 3.  Short rib syndrome--Beemer type in sibs.

Authors:  R C Hennekam
Journal:  Am J Med Genet       Date:  1991-08-01

4.  A case of short rib polydactyly.

Authors:  P Bidot-López; R C Ablow; J A Ogden; M J Mahoney
Journal:  Pediatrics       Date:  1978-03       Impact factor: 7.124

5.  Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

Authors:  J Spranger; B Grimm; M Weller; G Weissenbacher; J Herrmann; E Gilbert; R Krepler
Journal:  Z Kinderheilkd       Date:  1974-01-17

6.  Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral anomalies.

Authors:  R M Saldino; C D Noonan
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1972-02

7.  Brief clinical report: short rib-polydactyly syndrome, Majewski type.

Authors:  V M Walley; C F Coates; J J Gilbert; G H Valentine; E M Davies
Journal:  Am J Med Genet       Date:  1983-03

Review 8.  Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome.

Authors:  A E Lin; N Doshi; L Flom; B Tenenholz; K L Filkins
Journal:  Am J Med Genet       Date:  1991-06-01

9.  Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Authors:  R Bernstein; J Isdale; M Pinto; J Du Toit Zaaijman; T Jenkins
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

10.  Unusual short rib-polydactyly syndrome.

Authors:  Y C Tsai; J M Chang; C C Changchien; H L Eng; W J Chen; C C Lui; C B Huang
Journal:  Am J Med Genet       Date:  1992-09-01
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  3 in total

1.  Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Authors:  Amy E Merrill; Barry Merriman; Claire Farrington-Rock; Natalia Camacho; Eiman T Sebald; Vincent A Funari; Matthew J Schibler; Marc H Firestein; Zachary A Cohn; Mary Ann Priore; Alicia K Thompson; David L Rimoin; Stanley F Nelson; Daniel H Cohn; Deborah Krakow
Journal:  Am J Hum Genet       Date:  2009-04       Impact factor: 11.025

2.  Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type.

Authors:  N Badiner; S P Taylor; K Forlenza; R S Lachman; M Bamshad; D Nickerson; D H Cohn; D Krakow
Journal:  Clin Genet       Date:  2017-03-13       Impact factor: 4.438

3.  Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.

Authors:  L I al-Gazali; L Sztriha; A Dawodu; E Varady; M Bakir; A Khdir; J Johansen
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318
  3 in total

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