Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation.

Am J Med Genet

Service de Biologie du Développement, Hôpital Robert-Debré, Paris, France.

Published: December 1998

We report on a fetus with cranio-facial anomalies, a narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects were seen on roentgenographic examination, including absent vertebrae and ribs, a supernumerary vertebra, a hemivertebra, and rib fusion. These findings are compatible with Casamassima-Morton-Nance syndrome. The patient was the carrier of a translocation t(6;9)(p12;q12), inherited from the mother. Although the occurrence of this rearrangement may be coincidental, it may also indicate a possible locus for this autosomal recessive thoracic dysplasia.

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http://dx.doi.org/10.1002/(sici)1096-8628(19981228)80:5<514::aid-ajmg15>3.0.co;2-0DOI Listing

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