Acampomelic campomelic dysplasia in genetic male without sex reversal

Journal of Perinatology

Volumn 32, Issue 1, 2012, Pages 75-77

  Herman, T E ^a   Siegel, M J ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACAMPOMELIC CAMPOMELIC DYSPLASIA; APGAR SCORE; ARTICLE; BIPOLAR DISORDER; CAMPOMELIC DYSPLASIA; CASE REPORT; CLEFT PALATE; ELBOW RADIOGRAPHY; HUMAN; INFANT; MALE; MALE GENITAL SYSTEM; MATERNAL DIABETES MELLITUS; MICROGNATHIA; MOTHER; MUSCLE HYPOTONIA; PIERRE ROBIN SYNDROME; POSITIVE END EXPIRATORY PRESSURE; SCAPULA; SPINE RADIOGRAPHY; THORAX RADIOGRAPHY; TRACHEOTOMY;

CAMPOMELIC DYSPLASIA; HUMANS; INFANT, NEWBORN; MALE; PIERRE ROBIN SYNDROME;

EID: 84855265933     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/jp.2011.92     Document Type: Article

References (12)

1. Mansour S, Hall CM, Pembrey ME, Young ID. A clinical and genetic study of campomelic dysplasia. J Med Genet 1995; 32: 415-420.
2. Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C. Phenotype of survivors of campomelic dysplasia. J Med Genet 2002; 39: 597-602.
3. Savarirayan R, Banker A. Acampomelic campomelic dysplasia with denovo 5q;17q reciprocal translocation and severe phenotype. J Med Genet 1998; 35: 597-599. (Pubitemid 28302283)
4. Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS et al. A case of campomelic dysplasia without sex reversal. J Korean Med Sci 2011; 26: 143-145.
5. Jakubiczka S, Bettecken T, Koch G, Tuysuz B, Wollnik B, Wieacker P. Campomelic dysplasia without sex reversal in a Turkis patient due to mutation Ala119Val within the Sox 9 gene. Clin Dysmorphol 2001; 10: 197-201. (Pubitemid 32587677)
6. Hong JR, Barber M, Scott CI, Guttenberg M, Wolfson PJ. 3 year old phenotypic female with campomelic dysplasia with bilateral gonadoblastoma. J Pedatr Surg 1995; 12: 1735-1737.
7. Foster JW, Dominguez Weglich MA, Guioli S, Kwos C, Weller PA, Stevanovic M et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in SRY related gene. Nature 1994; 372: 525-530. (Pubitemid 24368528)
8. Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheugn SW, Mazurczak T et al. Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genetics 2007; 143A: 866-870. (Pubitemid 46556174)
9. Farra C, Piguet C, Guillaume C, D'Ercole C, Phillip N. Congenital bowing of long bones; prenatal ultrasound findings and diagnostic dilemnas. Fetal Diag Ther 2002; 17: 236-239. (Pubitemid 34638986)
10. Watiker V, Lachman RS, Wilcox WR, Barroso I, Schafer AJ, Scherer G. Differentiating campomelic dysplasia from Cumming syndrome. Am J Med Genet 2005; 135A: 100-112.
11. Ming JE, McDonald McGkinn DM, Markowitz RI, Ruchelli E, Zackai EH. Heterotaxia in a fetus with campomeli, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: Expanding the phenotype of Cumming syndrome. Am J Med Genet 1997; 73: 419-424.
12. Gordon CT, Tan TY, Benko S, FitzPatrick D, Lyonnet S, Farlie P. Long range regulation at the SOX( locus in development and disease. J Med Genet 2009; 46: 649-656.