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New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.
Am J Med Genet. 1994 Jul 15; 51(4):586-90.AJ

Abstract

We report on 2 brothers and their nephew with an apparently new X-linked mental retardation (XLMR) syndrome characterized by a distinct facial appearance, growth retardation, and severe mental retardation. The facial traits included triangular shape; bifrontal narrowness; malar flatness; blepharophimosis; very deeply set eyes; epicanthus inversus; bulbous nose; low hairline; low-set, deeply cupped, and protruding ears; short ill-defined philtrum; and thin tented upper lip. These facial anomalies are particularly striking and recognizable even at birth. The boys were small for gestational age and remained below -2 SD in growth parameters. With age, large joint contractures developed. Pectus excavatum was apparent at birth but became more obvious with age. Global developmental delay was evident in infancy. The brothers were nonverbal while their nephew spoke simple words. Optic atrophy, esotropia, nystagmus, and spastic diplegia were evident. They were self-abusive, hyperactive, and poorly coordinated. CT scans demonstrated atrophic hydrocephalus. No EEG abnormalities were detected. Karyotypes were 46,XY and fragile X negative. Routine chemistries; amino, organic, and uronic acids; oligosaccharides; lysosomal enzymes; and very long chain fatty acids were normal. Remarkable phenotypic similarity between these brothers and their nephew and lack of manifestations in their mothers makes X-linked recessive inheritance likely. This syndrome, which does not appear to have been reported previously, adds to the delineation of XLMR.

Authors+Show Affiliations

New York State Institute for Basic Research in Mental Retardation, Staten Island 10314.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7943044

Citation

Brooks, S S., et al. "New X-linked Mental Retardation (XLMR) Syndrome With Distinct Facial Appearance and Growth Retardation." American Journal of Medical Genetics, vol. 51, no. 4, 1994, pp. 586-90.
Brooks SS, Wisniewski K, Brown WT. New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. Am J Med Genet. 1994;51(4):586-90.
Brooks, S. S., Wisniewski, K., & Brown, W. T. (1994). New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. American Journal of Medical Genetics, 51(4), 586-90.
Brooks SS, Wisniewski K, Brown WT. New X-linked Mental Retardation (XLMR) Syndrome With Distinct Facial Appearance and Growth Retardation. Am J Med Genet. 1994 Jul 15;51(4):586-90. PubMed PMID: 7943044.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation. AU - Brooks,S S, AU - Wisniewski,K, AU - Brown,W T, PY - 1994/7/15/pubmed PY - 1994/7/15/medline PY - 1994/7/15/entrez SP - 586 EP - 90 JF - American journal of medical genetics JO - Am J Med Genet VL - 51 IS - 4 N2 - We report on 2 brothers and their nephew with an apparently new X-linked mental retardation (XLMR) syndrome characterized by a distinct facial appearance, growth retardation, and severe mental retardation. The facial traits included triangular shape; bifrontal narrowness; malar flatness; blepharophimosis; very deeply set eyes; epicanthus inversus; bulbous nose; low hairline; low-set, deeply cupped, and protruding ears; short ill-defined philtrum; and thin tented upper lip. These facial anomalies are particularly striking and recognizable even at birth. The boys were small for gestational age and remained below -2 SD in growth parameters. With age, large joint contractures developed. Pectus excavatum was apparent at birth but became more obvious with age. Global developmental delay was evident in infancy. The brothers were nonverbal while their nephew spoke simple words. Optic atrophy, esotropia, nystagmus, and spastic diplegia were evident. They were self-abusive, hyperactive, and poorly coordinated. CT scans demonstrated atrophic hydrocephalus. No EEG abnormalities were detected. Karyotypes were 46,XY and fragile X negative. Routine chemistries; amino, organic, and uronic acids; oligosaccharides; lysosomal enzymes; and very long chain fatty acids were normal. Remarkable phenotypic similarity between these brothers and their nephew and lack of manifestations in their mothers makes X-linked recessive inheritance likely. This syndrome, which does not appear to have been reported previously, adds to the delineation of XLMR. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7943044/New_X_linked_mental_retardation__XLMR__syndrome_with_distinct_facial_appearance_and_growth_retardation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=51&issue=4&spage=586 DB - PRIME DP - Unbound Medicine ER -