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A new X-linked multiple congenital anomalies/mental retardation syndrome.
Am J Med Genet. 1984 Jan; 17(1):367-74.AJ

Abstract

We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time.

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Publisher Full Text

Authors

Golabi M
No affiliation info available
Ito M
No affiliation info available
Hall BD
No affiliation info available

MeSH

Abnormalities, MultipleAdolescentAdultChildEarFaceFemaleFollow-Up StudiesHumansInfantIntellectual DisabilityMaleMicrocephalyPedigreeSyndromeTooth AbnormalitiesX Chromosome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6711604

Citation

Golabi, M, et al. "A New X-linked Multiple Congenital Anomalies/mental Retardation Syndrome." American Journal of Medical Genetics, vol. 17, no. 1, 1984, pp. 367-74.
Golabi M, Ito M, Hall BD. A new X-linked multiple congenital anomalies/mental retardation syndrome. Am J Med Genet. 1984;17(1):367-74.
Golabi, M., Ito, M., & Hall, B. D. (1984). A new X-linked multiple congenital anomalies/mental retardation syndrome. American Journal of Medical Genetics, 17(1), 367-74.
Golabi M, Ito M, Hall BD. A New X-linked Multiple Congenital Anomalies/mental Retardation Syndrome. Am J Med Genet. 1984;17(1):367-74. PubMed PMID: 6711604.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new X-linked multiple congenital anomalies/mental retardation syndrome. AU - Golabi,M, AU - Ito,M, AU - Hall,B D, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 367 EP - 74 JF - American journal of medical genetics JO - Am J Med Genet VL - 17 IS - 1 N2 - We report on 2 boys, the sons of sisters, and their mother's brother who have a new, X-linked multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The propositus was a 16-month-old caucasian male with 1) mental retardation, 2) congenital microcephaly, 3) postnatal growth deficiency, 4) ridged metopic suture with narrow bifrontal diameter, 5) upslanted palpebral fissures with persistent epicanthal folds, strabismus, and lacrimal duct obstruction, 6) narrow palate, 7) macrodontia, 8) anteverted ears, 9) atrial septal defect, 10) dry brittle scalp hair and 11) cutis marmorata. His chromosomes were normal. His cousin and uncle were similarly affected. This distinctive MCA/MR syndrome is added to the list of X-linked malformation syndromes known at the present time. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6711604/A_new_X_linked_multiple_congenital_anomalies/mental_retardation_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1984&volume=17&issue=1&spage=367 DB - PRIME DP - Unbound Medicine ER -