Zespół krótkie żebro-polidaktylia

Zespoły krótkie żebro-polidaktylia (ang. short rib polydactyly syndromes, SRPS) – grupa zespołów wad wrodzonych należących do letalnych dysplazji kostnych, których wspólną cechą jest hipoplazja klatki piersiowej, polidaktylia i skrócenie kości długich. Opisano kilka typów tego zespołu:

Zespoły te są na tyle rzadkie, że nie określono ich częstości w populacji; jest ona bardzo niska. Nie stwierdzono różnicy w częstości tych chorób u noworodków płci żeńskiej i męskiej. Udowodniono dziedziczenie autosomalne recesywne zespołów grupy SRPS.

Przypisy

  1. ↑ Saldino, RM, Noonan, CD. Severe thoracic dystrophy with striking micromelia, abnormal osseous development, including the spine, and multiple visceral abnormalities. „Am J Roentgen”. 114, s. 257-263, 1972. 
  2. ↑ Majewski F, Pfeiffer RA, Lenz W, Müller R, Feil G, Seiler R. Polysyndaktylie, verkuerzte Gliedmassen, und Genitalfehlbildungen: Kennzeichen eines selbstaendigen Syndrome?. „Z Kinderheilk”. 111, s. 118-138, 1971. PMID: 4331366. 
  3. ↑ Verma, IC, Bhargava, S, Agarwal, S. An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydactyly and genital anomalies. „Birth Defects Orig Art”. Ser XI. 6, s. 167-174, 1975. 
  4. ↑ Naumoff P, Young LW, Mazer J, Amortegui AJ. Short-rib-polydactyly syndrome type III. „Radiology”. 122, s. 443-447, 1977. PMID: 834893. 
  5. ↑ Beemer FA, Langer LO Jr, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC 3rd. A new short rib syndrome: report of two cases. „Am J Med Genet”. 14, s. 115-123, 1983. PMID: 6829599. 

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