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Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.
Clin Genet. 1986 Dec; 30(6):481-4.CG

Abstract

An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity.

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Publisher Full Text

Authors

Silengo MC
No affiliation info available
Bell GL
No affiliation info available
Biagioli M
No affiliation info available
Guala A
No affiliation info available
Bianco R
No affiliation info available
Strandoni P
No affiliation info available
De Sario PN
No affiliation info available
Franceschini P
No affiliation info available

MeSH

Abnormalities, MultipleCryingFacial AsymmetryFemaleGenes, DominantHeart Defects, CongenitalHumansInfantIntellectual DisabilityMaleMicrocephalyPedigreeSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3815881

Citation

Silengo, M C., et al. "Asymmetric Crying Facies With Microcephaly and Mental Retardation. an Autosomal Dominant Syndrome With Variable Expressivity." Clinical Genetics, vol. 30, no. 6, 1986, pp. 481-4.
Silengo MC, Bell GL, Biagioli M, et al. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clin Genet. 1986;30(6):481-4.
Silengo, M. C., Bell, G. L., Biagioli, M., Guala, A., Bianco, R., Strandoni, P., De Sario, P. N., & Franceschini, P. (1986). Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clinical Genetics, 30(6), 481-4.
Silengo MC, et al. Asymmetric Crying Facies With Microcephaly and Mental Retardation. an Autosomal Dominant Syndrome With Variable Expressivity. Clin Genet. 1986;30(6):481-4. PubMed PMID: 3815881.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. AU - Silengo,M C, AU - Bell,G L, AU - Biagioli,M, AU - Guala,A, AU - Bianco,R, AU - Strandoni,P, AU - De Sario,P N, AU - Franceschini,P, PY - 1986/12/1/pubmed PY - 1986/12/1/medline PY - 1986/12/1/entrez SP - 481 EP - 4 JF - Clinical genetics JO - Clin Genet VL - 30 IS - 6 N2 - An infant boy with asymmetric crying facies, microcephaly, developmental retardation and failure to thrive is reported. His two siblings died in the newborn period because of complex congenital heart defects. The mother and the maternal grandmother have asymmetric crying facies, microcephaly and normal intelligence. A maternal aunt has severe physical and mental retardation, facial asymmetry, microcephaly, and cleft palate. This family allows an expansion of the spectrum of malformations associated with asymmetric crying facies and suggests autosomal dominant inheritance with variable expressivity. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/3815881/Asymmetric_crying_facies_with_microcephaly_and_mental_retardation__An_autosomal_dominant_syndrome_with_variable_expressivity_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1986&volume=30&issue=6&spage=481 DB - PRIME DP - Unbound Medicine ER -