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MeSH Review:

Short Rib-Polydactyly Syndrome

Chen, C.P. et al., Krakow, D. et al., Yang, S.S. et al., Meizner, I. et al., Steichen-Gersdorf, E. et al., et al.

Krakow, Salazar, Wilcox, Rimoin, Cohn,

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Disease relevance of Short Rib-Polydactyly Syndrome

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 [1].
Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea [2].

High impact information on Short Rib-Polydactyly Syndrome

There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum [3].
We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski [4].
The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III [5].
Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome [6].
Examination of four patients with the "Verma-Naumoff" short rib-polydactyly syndrome showed many radiologic and pathologic features similar to those of type 1 ATD [7].

References

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. Chen, C.P., Chang, T.Y., Tzen, C.Y., Lin, C.J., Wang, W. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2002) [Pubmed]
Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea. Steichen-Gersdorf, E., Gassner, I., Covi, B., Fischer, H. Clin. Dysmorphol. (1994) [Pubmed]
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. Krakow, D., Salazar, D., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. Eur. J. Hum. Genet. (2000) [Pubmed]
Overlap between Majewski and hydrolethalus syndromes: a report of two cases. Sharma, A.K., Phadke, S., Chandra, K., Upreti, M., Khan, E.M., Naveed, M., Agarwal, S.S. Am. J. Med. Genet. (1992) [Pubmed]
Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report. Meizner, I., Barnhard, Y. Prenat. Diagn. (1995) [Pubmed]
Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome. Young, L.W., Wilhelm, L.L., Zuppan, C.W., Clark, R. Pediatric radiology. (2001) [Pubmed]
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. Yang, S.S., Langer, L.O., Cacciarelli, A., Dahms, B.B., Unger, E.R., Roskamp, J., Dinno, N.D., Chen, H. American journal of medical genetics. Supplement. (1987) [Pubmed]

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