Tags

Type your tag names separated by a space and hit enter

Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.
Genet Couns. 2000; 11(2):111-8.GC

Abstract

The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.

Authors+Show Affiliations

Department of Pediatrics and Clinical Genetics, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10893662

Citation

Garavelli, L, et al. "Marden-Walker Syndrome: Case Report, Nosologic Discussion and Aspects of Counseling." Genetic Counseling (Geneva, Switzerland), vol. 11, no. 2, 2000, pp. 111-8.
Garavelli L, Donadio A, Banchini G, et al. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. Genet Couns. 2000;11(2):111-8.
Garavelli, L., Donadio, A., Banchini, G., Magnani, C., Magnani, C., Calzolari, E., & Fryns, J. P. (2000). Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. Genetic Counseling (Geneva, Switzerland), 11(2), 111-8.
Garavelli L, et al. Marden-Walker Syndrome: Case Report, Nosologic Discussion and Aspects of Counseling. Genet Couns. 2000;11(2):111-8. PubMed PMID: 10893662.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling. AU - Garavelli,L, AU - Donadio,A, AU - Banchini,G, AU - Magnani,C, AU - Magnani,C, AU - Calzolari,E, AU - Fryns,J P, PY - 2000/7/14/pubmed PY - 2001/2/28/medline PY - 2000/7/14/entrez SP - 111 EP - 8 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 11 IS - 2 N2 - The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/10893662/Marden_Walker_syndrome:_case_report_nosologic_discussion_and_aspects_of_counseling_ L2 - http://www.diseaseinfosearch.org/result/4464 DB - PRIME DP - Unbound Medicine ER -