title: Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.
abstract: Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%.
authors.affiliation: Laboratoire d'Anatomie Pathologique et Neuropathologie, Assistance Publique-Hôpitaux de Marseille, Hôpital la Timone, Marseille, France.
authors.forename: Béma
authors.initials: B
authors.lastname: Coulibaly
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.forename: Nadine
authors.initials: N
authors.lastname: Girard
authors.forename: Cornel
authors.initials: C
authors.lastname: Popovici
authors.forename: Chantal
authors.initials: C
authors.lastname: Missirian
authors.forename: Hélène
authors.initials: H
authors.lastname: Heckenroth
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Tasei
authors.forename: Carla
authors.initials: C
authors.lastname: Fernandez
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D055673:Acrocallosal Syndrome / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003616:Dandy-Walker Syndrome / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008844:Micrognathism / Q000235:genetics; D009333:Neck / Q000002:abnormalities; D050497:Stillbirth