American Journal of Medical Genetics 51:203-212 (1994) Severe Spondylocostal Dysostosis Associated With Other Congenital Anomalies: A zyxwvu ClinicaVEpidemiologic Analysis and Description of Ten Cases From the Spanish Registry Maria-Luisa Martinez-Frias,Eva Bermejo, Luis Paisan, Martin Martin, Javier Egiibs, Josh-AntonioLopez, Salvador Martinez, Carlos Orbea, Fermin Cucalbn, Josep-Maria Gairi, Miguel Urioste, and Maria-Angeles de la Cruz zyxwvu ECEMC and Departamento zyxwvutsrq de Farmacologia (M.-L.M.-F.), ECEMC (R.B., M.-A.d.l.C.), Facultad de Medicina, Universidad Complutense, Madrid, Servicio de Pediatria (L.P.), Hospital Materno Infantil Ntra. Sra. de Ariinzazu, San Sebastian, Servicio de Pediatria (M.M.), Hospital del Rio Hortega, Valladolid, Servicio de Neonatologia (J.E.), Hospital Virgen del Camino, Pamplona, Servicio de Pediatria (J.-A.L.), Hospital Rafael Mkndez, Lorca, Murcia, Servicio de Pediatria (S.M.), Hospital Dr. Trueta, Gerona, Servicio de Neonatologia (C.O.), Hospital Doce de Octubre, Madrid, Servicio de Pediatria (F.C.), Hospital San Millan, Logrofio, Servicio de Pediatria (J.-M.G.), Instituto Dexeus, Barcelona, ECEMC and Hospital Universitario San Carlos (M. U.), Facultad de Medicina, Universidad Complutense, Madrid, Spain We describe 10 cases born to nondiabetic mothers who presented with severe spondy- locostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Span- ish Collaborative Study of Congenital Mal- formations (ECEMC).We analyze the associ- ated malformations in the 10 cases with severe SCD, as well as in all cases with less severe SCD among children with MCA pat- terns of unknown cause. Cases with SCD were preferentially asso- ciated with caudal dysgenesis, diaphrag- matic hernia, and central nervous system anomalies. o 1994 Wiley-Iiss, Inc. KEY WORDS: costovertebral dysostosis, spondylothoracic dysostosis, Crab-like thorax, vertebral anomaly, rib anomaly, asso- ciated anomalies, epidemi- ology INTRODUCTION In 1991, Giacoia and Say described a case of spondy- locostal dysostosis (SCD) with neural tube defects (NTD). Murr et al. [1992] published another case of Received for publication July 3,1993; revision received January 19, 1994. Address reprint requests to Dr. M.L. Martinez-Frias, ECEMC, Facultad de Medicina, Universidad Complutense, 28040 Madrid Spain. zyxwvutsrq 0 1994 Wiley-Liss, zyxwvut Inc. SCD with cloaca1 dysgenesis and other congenital de- fects, and called for further reports of SCD cases asso- ciated with major malformations. In addition, they con- sidered that their case had a pattern similar to that described by Casamassima et al. [1981]. I n a recent let- ter to the Editor, Lin and Harster zyx [ 19931 described an- other case with a multiple congenital anomaly (MCA) pattern including severe costovertebral abnormalities and NTD, associated with caudal defects. Whether those cases with severe SCD associated with NTD and other anomalies constitute specific entities is still un- known. Here we analyzed all the cases with MCA patterns identified in the Spanish Collaborative Study of Con- genital Malformations (ECEMC), in order to identify groups of anomalies associated with SCD. MATERIALS zyx AND METHODS The study was done using the 20,526 malformed in- fants identified among 1,052,517 livebirths, registered by the ECEMC between April 1976 and March 1993. Its methodology, which has been previously published [Martinez-Frias et al., 1990, 1991; Martinez-Frias and Urioste, 19941, is based in a congenital defects registry structured as a hospital-based, case-control study and surveillance system, aimed at investigating causes of congenital defects. All children born in over 60 collabo- rating hospitals spread throughout Spain are exam- ined by pediatricians who, being interested in the prob- lem of congenital anomalies, collaborate with the ECEMC program and follow a single strict methodol- ogy. They examine the newborn infants during the first 3 days of life to identify major andlor minor congenital anomalies. For each case, the next nonmalformed in-