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A new case of Martsolf syndrome.
Genet Couns. 2007; 18(1):71-5.GC

Abstract

Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. A seven-year-old boy was admitted to the hospital with growth retardation and difficulties in walking. His parents were first cousins. Bilateral lens extraction was performed during infancy because of congenital cataract. On physical examination he had short stature, microcephaly, micropthalmia, hypogonadism, mental retardation. Brain magnetic resonance imaging revealed alterations in the white matter. Up to date very few cases with this syndrome have been reported. This is the first case described in the Turkish population and may add valuable information to the literature.

Authors+Show Affiliations

Ege University, Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.No 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

17515302

Citation

Bora, E, et al. "A New Case of Martsolf Syndrome." Genetic Counseling (Geneva, Switzerland), vol. 18, no. 1, 2007, pp. 71-5.
Bora E, Cankaya T, Alpman A, et al. A new case of Martsolf syndrome. Genet Couns. 2007;18(1):71-5.
Bora, E., Cankaya, T., Alpman, A., Karaca, E., Cogulu, O., Tekgul, H., & Ozkinay, F. (2007). A new case of Martsolf syndrome. Genetic Counseling (Geneva, Switzerland), 18(1), 71-5.
Bora E, et al. A New Case of Martsolf Syndrome. Genet Couns. 2007;18(1):71-5. PubMed PMID: 17515302.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new case of Martsolf syndrome. AU - Bora,E, AU - Cankaya,T, AU - Alpman,A, AU - Karaca,E, AU - Cogulu,O, AU - Tekgul,H, AU - Ozkinay,F, PY - 2007/5/23/pubmed PY - 2007/6/22/medline PY - 2007/5/23/entrez SP - 71 EP - 5 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 18 IS - 1 N2 - Martsolf syndrome is an autosomal recessive syndrome characterized by microcephaly, mental retardation, cataract, hypogonadism and short stature. A seven-year-old boy was admitted to the hospital with growth retardation and difficulties in walking. His parents were first cousins. Bilateral lens extraction was performed during infancy because of congenital cataract. On physical examination he had short stature, microcephaly, micropthalmia, hypogonadism, mental retardation. Brain magnetic resonance imaging revealed alterations in the white matter. Up to date very few cases with this syndrome have been reported. This is the first case described in the Turkish population and may add valuable information to the literature. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/17515302/A_new_case_of_Martsolf_syndrome_ L2 - http://www.diseaseinfosearch.org/result/4490 DB - PRIME DP - Unbound Medicine ER -