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

✍ Scribed by Da�kha-Dahmane, F.; Huten, Y.; Morvan, J.; Szpiro-Tapia, S.; Nessmann, C.; Eydoux, P.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 24 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981228)80:5<514::aid-ajmg15>3.0.co;2-0

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✦ Synopsis

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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