Prenatal ultrasound diagnosis of Toriello-Carey syndrome

Prenatal Diagnosis

Volumn 22, Issue 13, 2002, Pages 1185-1187

  Paladinil, Dario ^a,c   Giovanna Russo, Maria ^b   Tartaglione, Antonio ^a   Loffredo, Annamaria ^a   Martinelli, Pasquale ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c NONE   (Italy)

Author keywords

Agenesis of the corpus callosum; Congenital heart disease; Prenatal diagnosis; Spongious cardiomyopathy; Toriello Carey syndrome; Ultrasound

Indexed keywords

AGENESIS; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CONGENITAL MALFORMATION; CONTROLLED STUDY; CORPUS CALLOSUM; ECHOGRAPHY; FACE MALFORMATION; FETUS; HEART DISEASE; HUMAN; MALE; MUSCLE HYPOTONIA; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; TORIELLO CAREY SYNDROME;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; ADULT; CARDIOMYOPATHIES; CHILD, PRESCHOOL; CORPUS CALLOSUM; ECHOCARDIOGRAPHY; FACE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; MYOCARDIUM; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

ERETMOCHELYS IMBRICATA;

EID: 12244280831     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.488     Document Type: Article

References (10)

1. Chinen Y, Tohma T, Izumikawa Y, et al. 1999. Two sisters with Toriello-Carey syndrome. Am J Med Genet 87: 262-264.
2. Czarnecki P, Lacombe D, Weiss L. (1996). Toriello-Carey syndrome: Evidence for X-linked inheritance. Am J Med Genet 65: 291-294.
3. Devi AS, Eisenfeld L, Uphoff D, Greenstein R. 1995. New syndrome of hydrocephalus, endocardial fibroelastosis and cataract (HEC syndrome). Am J Med Genet 56: 62-66.
4. Dobyns WB. 1996. Absence makes the search longer. Invited Editorial. Am J Med Genet 58: 7-16.
5. Paladini D, Russo MG, Palmieri S, Ianniruberto A, Caruso G, Martinelli P. 1997. Myocardial dysplasia in a 3rd trimester fetus. Texas Heart Inst J 24: 53-57.
6. Paladini D, D'Armiento M, Ardovino I, Martinelli P. 2000. Prenatal diagnosis of the cerebro-oculo-skeletal (COFS) syndrome. Ultrasound Obstet Gynecol 16: 91-93.
7. Pena SDJ, Shokeir MHK. 1974. Autosomal recessive cerebro-oculofacio-skeletal (COFS) syndrome. Med Genet 5: 285-288.
8. Rodgers BL, Vanner LV, Pai GS, Sens MA. 1994. Walker-Warburg syndrome: Report of three affected sibs. Am J Med Genet 49: 198-201.
9. Toriello HV, Carey JC. 1988. Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive syndrome? Am J Med Genet 31: 17-23.
10. Wegner KJ, Hersh J. 2001. Toriello-Carey syndrome. An additional case and summary of previously reported cases. Clin Dysmorphol 10: 145-148.