Macrocephaly-cutis marmorata telangiectatica congenita syndrome - Prenatal signs in ultrasonography

Prenatal Diagnosis

Volumn 25, Issue 2, 2005, Pages 129-132

  Nyberg, R H ^a   Uotila, J ^b   Kirkinen, P ^b   Rosendahl, H ^a  

^a KANTA HÄME CENTRAL HOSPITAL   (Finland)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Fetal macrosomy; M CMTC syndrome; Macrocephaly; Prenatal diagnosis; Ultrasound

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CUTIS MARMORATA TELANGIECTATICA CONGENITA; FEMALE; FEMUR MALFORMATION; FETUS; FETUS ECHOGRAPHY; FETUS OUTCOME; FRONTAL BOSSING; HUMAN; IMAGE ANALYSIS; MACROCEPHALY; PLEURA EFFUSION; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETAL MACROSOMIA; HUMANS; INFANT, NEWBORN; PREGNANCY; PREGNANCY TRIMESTER, THIRD; SYNDROME; TELANGIECTASIS; ULTRASONOGRAPHY, PRENATAL;

MARMORATA;

EID: 14744268387     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1081     Document Type: Article

References (9)

1. Ambler G. 2002. Overgrowth. Best Pract Res Clin Endocrinol Metab 16: 519-546.
2. Clayton-Smith J, Kerr B, Brunner H, et al. 1997. Macrocephaly with cutis marmorata, haemangioma and syndactyly-a distinctive overgrowth syndrome. Clin Dysmorphol 6: 291-302.
3. DeRoche ME, Craffey A, Greenstein R, Borgida AF. 2004. Antenatal sonographic features of Perlman syndrome. J Ultrasound Med 23: 561-564.
4. Moore CA, Toriello HV, Abuelo DN, et al. 1997. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet 70: 67-73.
5. Parviainen AM, Puolakka J, Kirkinen P. 2002. Antepartum findings and obstetric aspects in pregnancies followed by neonatal persistent hyperinsulinemic hypoglycemia. Am J Perinatol 19: 163-168.
6. Robertson SP, Gattas M, Rogers M, Adés LC. 2000. Macrocephaly-cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clin Dysmorphol 9: 1-9.
7. Stoll C. 2003. Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation. Genet Couns 14: 173-179.
8. Vogels A, Devriendt K, Legius E, et al. 1998. The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet Couns 9: 245-253.
9. Yano S, Watanabe Y. 2001. Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet 102: 149-152.