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Cumming syndrome

MIM.211890

Tuesday 8 March 2005

Autosomal recessive inheritance.

Synopsis

- cervical lymphocele (cystic hygroma)
- renal-hepatic-pancreatic dysplasia
- short gut
- polysplenia
- generalized lymphedema
- short limbs
- bowed limbs (campomelia)

References

- Cumming, W. A.; Ohlsson, A.; Ali, A. : Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. Am. J. Med. Genet. 25: 783-790, 1986. PubMed ID : #3538874#

- Ming, J. E.; McDonald-McGinn, D. M.; Markowitz, R. I.; Ruchelli, E.; Zackai, E. H. : Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. Am. J. Med. Genet. 73: 419-424, 1997. PubMed ID : #9415469#

- Perez del Rio, M. J.; Fernandez-Toral, J.; Madrigal, B.; Gonzalez-Gonzalez, M.; Ablanedo, P.; Herrero, A. :Two new cases of Cumming syndrome confirming autosomal recessive inheritance. Am. J. Med. Genet. 82: 340-343, 1999. PubMed ID : #10051169#

- Urioste, M.; Arroyo, A.; Martinez-Frias, M.-L. : Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs. Am. J. Med. Genet. 41: 475-477, 1991. PubMed ID : #1776641#

- Watiker, V.; Lachman, R. S.; Wilcox, W. R.; Barroso, I.; Schafer, A. J.; Scherer, G. :
Differentiating campomelic dysplasia from Cumming syndrome. (Letter) Am. J. Med. Genet. 135A: 110-112, 2005.