A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome

European Journal of Medical Genetics

Volumn 49, Issue 6, 2006, Pages 466-471

  Colombani, Marina ^a   Chouchane, Mondher ^a   Pitelet, Gaelle ^b   Morales, Laure ^c   Callier, Patrick ^a   Pinard, Jean Pierre ^c   Lion François, Laurence ^b   Thauvin Robinet, Christel ^a   Mugneret, Francine ^a   Huet, Frédéric ^a   Guibaud, Laurent ^b   Faivre, Laurence ^a  

^a Medical University of Dijon   (France)

^b HÔPITAL DEBROUSSE   (France)

^c Centre Hospitalier Philippe Le Bon   (France)

Author keywords

Hydrocephalus; Megalencephaly; Polydactyly; Polymicrogyria

Indexed keywords

ALEXANDER DISEASE; ANTHROPOMETRY; ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CLINICAL EXAMINATION; CLINICAL FEATURE; CONSANGUINITY; CYTOGENETICS; FACE DYSMORPHIA; FAMILY HISTORY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; HYDROCEPHALUS; INHERITANCE; MACROCEPHALY; MACROSOMIA; MICROGYRIA; MUSCLE HYPERTONIA; POLYDACTYLY; PREGNANCY; SITTING; SUPRASYLVIAN GYRUS; TELOMERE; ULTRASOUND; UMBILICAL ARTERY; BRAIN; CONGENITAL MALFORMATION; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; BRAIN; FEMALE; HUMANS; HYDROCEPHALUS; INFANT; MAGNETIC RESONANCE IMAGING; POLYDACTYLY; SYNDROME;

EID: 33845920322     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.05.001     Document Type: Article

References (8)

1. Ausems M.G., Ippel P.F., and Renardel de Lavalette P.A. Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. Clin. Dysmorphol. 3 (1994) 21-30
2. Courtens W., Vamos E., Christophe C., and Schinzel A. Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome. Am. J. Med. Genet. 69 (1997) 17-22
3. Jansen A., and Anderman E. Review Genetics of the polymicrogyria syndromes. J. Med. Genet. 42 (2005) 369-378
4. Kumandas S., Akcakus M., Coskun A., and Gumus H. Joubert syndrome: review and report of seven new cases. Eur. J. Neurol. 11 (2004) 505-510
5. Lapunzina P., Gairi A., Delicado A., Mori M.A., Torres M.L., Goma A., Navia M., and Pajares I.L. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am. J. Med. Genet. A 130 (2004) 45-51
6. Mirzaa G., Dodge N.N., Glass I., Day C., Gripp K., Nicholson L., Straub V., Voit T., and Dobyns W.B. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation an seizures. Neuropediatrics 35 (2004) 353-359
7. Neri G., Gurrieri F., Zanni G., and Lin A. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am. J. Med. Genet. 79 (1998) 279-283
8. Gohlich-Ratmann G., Baethmann M., Lorenz P., Gartner J., Goebel H.H., Engelbrecht V., Christen H.J., Lenard H.G., and Voit T. Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. Am. J. Med. Genet. 79 (1998) 161-167