Jarcho-Levin and Casamassima syndromes: Differential diagnosis and frequencies in Spain;Sindromes de Jarcho-Levin y Casamassima: Diagnostico diferencial y frecuencia en Espana

Anales Espanoles de Pediatria

Volumn 48, Issue 5, 1998, Pages 510-514

  Martinez Frias M L ^a   Bermejo Sanchez E ^a   Martinez Santana S ^b   Nieto Conde, C ^c   Egues Jimeno J ^d   Perez Fernandez J L ^e   Foguel Vidal, A ^f  

^a UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^b HOSPITAL JOSEP TRUETA   (Spain)

^c HOSPITAL GENERAL DE SEGOVIA   (Spain)

^d Universidad Pública de Navarra   (Spain)

^e HOSPITAL DE BASURTO   (Spain)

^f Hospital Sant Jaume de Calella   (Spain)

Author keywords

Casamassima syndrome; Frequencies; Jarcho Levin syndrome

Indexed keywords

ANUS ATRESIA; ARTICLE; BONE MALFORMATION; CASAMASSIMA SYNDROME; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; INFANT; JARCHO LEVIN SYNDROME; RIB MALFORMATION; UROGENITAL TRACT MALFORMATION; VERTEBRA MALFORMATION; ANAL CANAL; CONGENITAL MALFORMATION; MULTIPLE MALFORMATION SYNDROME; NEWBORN; RIB; SPAIN; SPINE; SYNDROME;

ABNORMALITIES, MULTIPLE; ANAL CANAL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; RIBS; SPAIN; SPINE; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 0032061390     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Jarcho S, Levin PM. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 1938; 62:216-226.
2. Castroviejo IP, Rodríguez-Costa TR, Castillo F. Spondylothoracic dysplasia in three sisters. Dev Med Child Neurol 1973; 15:348-354.
3. Devos EA, Leroy JG, Braeckman JJ, Vanden Bulcke LJ, Langer LO. Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entity. Eur J Pediatr 1978; 128:7-15.
4. Solomon L, Jiménez RB, Reiner L. Spondylothoracic dysostosis. Arch Pathol Lab Med 1978; 102:201-205.
5. Lorenz P, Rupprecht E. Spondylocostal dysostosis: Dominant type. Am J Med Genet 1990; 35:219-221.
6. Cassidy SB, Herson V, Tibbets J. Natural history of Jarcho-Levin syndrome. Proceedings of the Greenwood Genetic Center 1984; 3:90-91.
7. Pérez-Comas C, García-Castro JM. Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 1974; 85:388-391.
8. Casamassima AC, Morton CC, Nance WE, Kodroff M, Caldwell R, Kelly T, Wolf B. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet 1981; 8:117-127.
9. Aymé S, Preus M. Spondylocostal/Spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling. Am J Med Genet 1986; 24:599-606.
10. Mortier GR, Lachman RS, Bocian M, Rimoin DL. Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 1996; 61:310-319.
11. Karnes P, Day D, Berry SA, Piermont MEM. Jarcho-Levin syndrome: Four new cases and classification of subtypes. Am J Med Genet 1991; 40:264-270.
12. Martínez-Frías ML. Primary midline development field. I. Clinical and epidemiological characteristics. Am J Med Genet 1995; 56:374-381.
13. Martínez-Frías ML, Frías JL, Rodríguez-Pinilla E, Urioste M, Bermejo E, Cereijo A, Gayá F. Value of clinical analysis in epidemiological research: The Spanish registry experience. Am J Med Genet 1991;41:192-195.
14. Martínez-Frías ML, Urioste M. Segmentation anomalies of the vertebras and ribs: A developmental filed defect: Epidemiologic evidence. Am J Med Genet 1994; 49:36-44.
15. Martínez-Frías ML, Bermejo E, Paisán L, Martín M, Egüés J, López JA, Martínez S, Orbea C, Cucalón F, Gairi JM, Urioste M, De la Cruz MA. Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description often cases from the Spanish Registry. Am J Med Genet 1994; 51:203-212.