title: Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.
abstract: 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. In light of this manifestation, a detailed comparative phenotypic analysis of published patients revealed a heterogeneous syndrome with significant clinical variability. Accordingly, it is proposed that Casamassima-Morton-Nance syndrome should be considered in those patients with the combination of a short and asymmetric thorax with rib and vertebral anomalies and scoliosis (spondylocostal-like pattern), anal atresia, absent external genitalia, renal and urethral abnormalities (caudal dysgenesis complex), craniofacial dysmorphic features (mainly flat nose with anteverted nares, low-set/abnormal ears, and short neck), hydrops, oligohydramnios, and a poor clinical outcome.
authors.affiliation: Departamento de Genética Médica, Hospital General de Tijuana ISESALUD, Baja California, México.
authors.forename: Victor M
authors.initials: VM
authors.lastname: Salinas-Torres
mesh_terms: D000015:Abnormalities, Multiple; D001006:Anus, Imperforate / Q000175:diagnosis* / Q000235:genetics; D004413:Dysostoses / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005313:Fetal Death; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
keywords: Casamassima-Morton-Nance syndrome; anal atresia; caudal dysgenesis; limb–body wall defect; spondylocostal dysostosis