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2011, Number 6

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Gac Med Mex 2011; 147 (6)

Diagnosis of prenantal holoprosencephalic agnatia complex

Pachajoa H, Quintero JC

Language: Spanish
References: 10
Page: 538-540
PDF size: 572.75 Kb.


ABSTRACT

The complex agnatia holoprosencephaly (CAH) is characterized by absence or severe hypoplasia of the mandible, abnormal position of the ears, microstomia and holoprosencephaly. A case of mother son aged 34, gravida 3, part 2, with multiplanar three-dimensional ultrasound diagnosis of holoprosencephaly and anatomical detail otocefalia, so diagnosis of CAH was made. A review of the literature and discuss the differential diagnosis.


REFERENCES

  1. Online Mendelian Inheritance in Man, OMIM (TM). Baltimore: Johns Hopkins University. MIM Number: 202650. Fecha de acceso: 20 de junio 20 de 2009. URL disponible: http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM

  2. Rotten D, Levaillant JM. Two- and three-dimensional sonographic assessment of the fetal face 2: Analysis of cleft lip, alveolus, and palate. Ultrasound Obstet Gynecol. 2004;24:402-11.

  3. O’neill BM, Alessi AS, Petti NA. Otocephaly or agnathia-synotia-microstomia syndrome: report of a case. J Oral Maxillofac Surg. 2003; 61:834-7.

  4. Johnston MC, Sulik KK. Some patterns of development in the craniofacial region. Birth Defects Orig Artic Ser. 1979;15:23-42.

  5. Erlich MS, Cunningham ML, Hudgins L. Transmission of the dysgnathia complex from mother to daughter. Am J Med Genet. 2000;95: 269-74.

  6. Akagi T, Mandai M, Ooto S, et al. Otx2 homeobox gene induces photoreceptor- specific phenotypes in cells derived from adult iris and ciliary tissue. Invest Ophthalmol Vis Sci. 2004;45:4570-5.

  7. Sergi C, Kamnasaran D. PRRX1 is mutated in a fetus with agnathiaotocephaly. Clin Genet. 2011;79(3):293-5.

  8. Gekas J, Li B, Kamnasaran D. Current perspectives on the etiology of agnathia-otocephaly. Eur J Med Genet. 2010;53(6):358-66.

  9. Hwang KS, Ding DC, Chang YK, Chen WH, Chu TY. Otocephaly. J Chin Med Assoc. 2007;70(7):298-301.

  10. Tantbirojn P, Taweevisit M, Sritippayawan S, Tanawattanacharoen S, Uerpairojkit B. Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly. J Obstet Gynaecol Res. 2008;34(4 Pt 2):663-5.




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