Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)

Brain and Development

Volumn 26, Issue 3, 2004, Pages 209-212

  Rufo Campos, Miguel ^a   Riveros Huckstadt, Pilar ^a   Rodríguez Criado, Germán ^a   Hernández Soto, Rocío ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

Cerebro facio thoracic dysplasia; Pascual Castroviejo syndrome

Indexed keywords

DIAZEPAM;

ARTICLE; BRACHYCEPHALY; BRAIN ATROPHY; BRAIN CORTEX; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; CLINICAL FEATURE; CLINOID LIGAMENT; COFFIN LOWRY SYNDROME; CORPUS CALLOSUM; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; DYSPLASIA; FACE; FACE DYSMORPHIA; FACIES; FOREHEAD; HAIR; HUMAN; HYPOPLASIA; INHERITANCE; LABORATORY TEST; LIGAMENT; LIGAMENT CALCINOSIS; MALE; MENTAL DEFICIENCY; MICROGNATHIA; MOUTH; MUSCLE HYPERTONIA; NEUROLOGIC EXAMINATION; NEWBORN; NOSE; PASCUAL CASTROVIEJO SYNDROME; PHENOTYPE; PHILTRUM; PHYSICAL EXAMINATION; PYLORUS STENOSIS; RIB MALFORMATION; ROBINOW SYNDROME; SYNDROME; THORAX MALFORMATION;

ADULT; BRAIN; CEREBELLUM; CHROMOSOME ABERRATIONS; CONSANGUINITY; FACE; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PREGNANCY; RADIOGRAPHY, THORACIC; RAPE; SYNDROME; THORAX; TOMOGRAPHY, X-RAY COMPUTED;

EID: 1642319469     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(03)00133-5     Document Type: Article

References (9)

1. Pascual Castroviejo I., Santolaya J.M., Lopez Martin V., Rodriguez-Costa T., Tendero A., Mulas F. Cerebro-facio-thoracic dysplasia: report of three cases. Dev Med Child Neurol. 17:1975;343-351.
2. Philip N., Guala A., Moncla A., Monlouis M., Aymé S., Giraud F. Cerebro-facio-thoracic dysplasia: a new family. J Med Genet. 29:1992;497-499.
3. Guion-Almeida M.L., Richieri-Costa A., Saavedra D., Cohen M.M. Jr. Cerebro-facio-thoracic syndrome. Am J Med Genet. 61:1996;152-153.
4. Aymé S., Preus M. Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. Am J Med Genet. 24:1986;599-606.
5. Casamassima A.C., Casson M.C., Nance W.E., Kodreff M., Caldwell R., Kelly T., et al. Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet. 8:1981;117-127.
6. Coffin G.S., Siris E., Wegienka L.C. Mental retardation with osteocartilagenous anomalies. Am J Dis Child. 112:1966;205-213.
7. Procopis P.G., Turner B. Mental retardation, abnormal fingers and skeletal anomalies: Coffin's syndrome. Am J Dis Child. 124:1972;258-261.
8. Teebi A. Autosomal recessive Robinow syndrome. Am J Med Genet. 35:1980;64-68.
9. Moerman P., Vanderberghe K., Fryns J.P., Haspelagh M., Lauweryns J.M. A new lethal chondrodysplasia with spondylocostal dysostosis multiple internal anomalies and Dandy-Walker cyst. Clin Genet. 27:1985;160-164.