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;2-0 | DOI Listing |
Pediatr Dev Pathol
September 2024
Instituto Tecnológico de Tijuana, Systems and Computing Department, Tijuana, Baja California, México.
Casamassima-Morton-Nance syndrome (CMNS) is a rare disorder characterized by spondylocostal dysostosis (SCD), anal atresia, and urogenital anomalies. We describe a fetus with CMNS associated with a limb-body wall defect (LBWD), the second such case in the literature. We compare the phenotypic differences with previously reported cases, including those with segmentation anomalies of the axial skeleton, body wall defects, or absent/abnormal genitalia, revealing the consistent presence of SCD in CMNS.
View Article and Find Full Text PDFJ Pediatr Genet
September 2024
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Casamassima-Morton-Nance syndrome (CMNS) includes a heterogeneous group of spondylocostal dysostosis along with anal atresia and genitourinary abnormalities. In 1981, Casamassima et al first described the syndrome in a fetus, and since then, only seven such cases have been reported so far. CMNS phenotype shows a significant clinical variability as documented in the reported cases.
View Article and Find Full Text PDFPediatr Dev Pathol
June 2016
Departamento de Genética Médica, Hospital General de Tijuana ISESALUD, Baja California, México.
In 1981, Casamassima and colleagues described an autosomal recessive syndrome of spondylocostal dysostosis associated with anal and urogenital anomalies. Here, I describe 1 new fetus who presented with limb-body wall defect as a novel association, compile 7 patients, and review the clinical phenotype of Casamassima-Morton-Nance syndrome. This appears to be the 1st Casamassima-Morton-Nance syndrome fetus with this complex malformation.
View Article and Find Full Text PDFPrenat Diagn
February 2009
Genetics Department, Instituto Nacional de Perinatología, IER, Mexico City, Mexico.
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