medigraphic.com
ISSN 1995-9494 (Electronic)
Revista del Hospital Clínico Quirúrgico "Arnaldo Milián Castro"

2015, Number 1

<< Back Next >>

Acta Med Cent 2015; 9 (1)

Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I

Algora HAE, Taboada LN, Rodríguez RL, Anoceto AE

Language: Spanish
References: 10
Page: 44-49
PDF size: 195.97 Kb.


ABSTRACT

Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It is possible to make a prenatal diagnosis of these dysplasias in 85% of cases, with a specific diagnosis in about half of them. It is presented a case of a fetus of 22.2 weeks in which occurs ultrasonographic findings were found compatible with a lethal osteochondrodysplasia. With anatopathologics findings and, above all, radiological, we could identify the specific type of skeletal dysplasia present in the fetus: short rib and polydactyly syndrome type I or Saldino-Noonan syndrome of low incidence characterized by shortening of limbs, polydactyly and narrow thorax with short ribs, which produces death from respiratory failure as a result of pulmonary hypoplasia, in the first hours of life.


REFERENCES

  1. Lantigua CA. Defectos congénitos de origen genético y ambiental. En: Introducción a la Genética Médica. La Habana: Ciencias Médicas; 2011. p. 306-41.

  2. Cruz M, Bosh J. Síndromes con alteración de los huesos tubulares y de la columna vertebral. En: Atlas de síndromes pediátricos. Barcelona: Espaxs; 1998. p. 316-61.

  3. Oliva RJA. Malformaciones del sistema músculo esquelético. En: Ultrasonografía diagnóstica fetal, obstétrica y ginecológica. La Habana: Ciencias Médicas; 2010. p. 195- 219.

  4. Kenneth LJ. Smith's recognizable patterns of human malformation. Philadelphia: Elsevier Saunder; 2006. p. 378-81.

  5. Saldino-Noonan síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263560?search=263560&highlight=263560

  6. Majewski syndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263520?search=263520&highlight=263520

  7. Verma-Naumoff síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/263510?search=263510&highlight=263510

  8. Beermer-Langer síndrome. Online Mendelian Inheritance in Man, OMIM® [Internet]. Baltimore, MD McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; 2014 [citado 3 Ene 2015]. Disponible en: http://www.omim.org/entry/269860?search=269860&highlight=269860

  9. Worman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, Lemerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet. 2011 May;155(5):943-68.

  10. Tonni G, Palmisano M, Ventura A, Grisolia G, Baffico AM, Pattacini P, et al. Majewski Syndrome (short rib polydactyly type II): Prenatal diagnosis and histological features of condral growth plate, liver and kidneys. Cong Anomalies. 2014 Nov;54(4):233-39. doi: 10.1111/cga.12066.




2020     |     www.medigraphic.com