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X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.
Am J Med Genet. 1994 Jul 15; 51(4):598-601.AJ

Abstract

We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis.

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Authors+Show Affiliations

Lungarotti MS
Istituto di Pediatria, Universitá di Perugia, Italy.
Martello C
No affiliation info available
Barboni G
No affiliation info available
Mezzetti D
No affiliation info available
Mariotti G
No affiliation info available
Calabro A
No affiliation info available

MeSH

Abnormalities, MultipleAdultAlopeciaDwarfismEpidermolysis Bullosa DystrophicaFaceGenetic LinkageHumansInfantIntellectual DisabilityMaleMicrocephalySex Chromosome AberrationsSyndromeX Chromosome

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

7943046

Citation

Lungarotti, M S., et al. "X-linked Mental Retardation, Microcephaly, and Growth Delay Associated With Hereditary Bullous Dystrophy Macular Type: Report of a Second Family." American Journal of Medical Genetics, vol. 51, no. 4, 1994, pp. 598-601.
Lungarotti MS, Martello C, Barboni G, et al. X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family. Am J Med Genet. 1994;51(4):598-601.
Lungarotti, M. S., Martello, C., Barboni, G., Mezzetti, D., Mariotti, G., & Calabro, A. (1994). X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family. American Journal of Medical Genetics, 51(4), 598-601.
Lungarotti MS, et al. X-linked Mental Retardation, Microcephaly, and Growth Delay Associated With Hereditary Bullous Dystrophy Macular Type: Report of a Second Family. Am J Med Genet. 1994 Jul 15;51(4):598-601. PubMed PMID: 7943046.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family. AU - Lungarotti,M S, AU - Martello,C, AU - Barboni,G, AU - Mezzetti,D, AU - Mariotti,G, AU - Calabro,A, PY - 1994/7/15/pubmed PY - 1994/7/15/medline PY - 1994/7/15/entrez SP - 598 EP - 601 JF - American journal of medical genetics JO - Am J Med Genet VL - 51 IS - 4 N2 - We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7943046/X_linked_mental_retardation_microcephaly_and_growth_delay_associated_with_hereditary_bullous_dystrophy_macular_type:_report_of_a_second_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=51&issue=4&spage=598 DB - PRIME DP - Unbound Medicine ER -