title: Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation.
abstract: 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.
authors.affiliation: Service de Biologie du Développement, Hôpital Robert-Debré, Paris, France.
authors.forename: F
authors.initials: F
authors.lastname: Daïkha-Dahmane
authors.forename: Y
authors.initials: Y
authors.lastname: Huten
authors.forename: J
authors.initials: J
authors.lastname: Morvan
authors.forename: S
authors.initials: S
authors.lastname: Szpiro-Tapia
authors.forename: C
authors.initials: C
authors.lastname: Nessmann
authors.forename: P
authors.initials: P
authors.lastname: Eydoux
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D011247:Pregnancy; D013909:Thorax / Q000002:abnormalities; D014178:Translocation, Genetic; D014564:Urogenital Abnormalities / Q000235:genetics