title: Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry.
abstract: We describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in all cases with less severe SCD among children with MCA patterns of unknown cause. Cases with SCD were preferentially associated with caudal dysgenesis, diaphragmatic hernia, and central nervous system anomalies.
authors.affiliation: ECEMC and Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: E
authors.initials: E
authors.lastname: Bermejo
authors.forename: L
authors.initials: L
authors.lastname: Paisán
authors.forename: M
authors.initials: M
authors.lastname: Martín
authors.forename: J
authors.initials: J
authors.lastname: Egüés
authors.forename: J A
authors.initials: JA
authors.lastname: López
authors.forename: S
authors.initials: S
authors.lastname: Martínez
authors.forename: C
authors.initials: C
authors.lastname: Orbea
authors.forename: F
authors.initials: F
authors.lastname: Cucalón
authors.forename: J M
authors.initials: JM
authors.lastname: Gairi
mesh_terms: D000015:Abnormalities, Multiple; D002490:Central Nervous System / Q000002:abnormalities*; D003050:Coccyx / Q000002:abnormalities; D004413:Dysostoses / Q000151:congenital*; D005260:Female; D006548:Hernia, Diaphragmatic; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012042:Registries; D012272:Ribs / Q000002:abnormalities*; D013030:Spain; D013131:Spine / Q000002:abnormalities*