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Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.
J Med Genet. 1992 Jul; 29(7):500-2.JM

Abstract

This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome.

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Authors+Show Affiliations

Woods CG
Department of Clinical Genetics, Churchill Hospital, Headington, Oxford.
Crouchman M
No affiliation info available
Huson SM
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolConsanguinityFemaleFingersHumansIntellectual DisabilityMaleMicrocephalyNervous System DiseasesPakistanSyndromeToes

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1640433

Citation

Woods, C G., et al. "Three Sibs With Phalangeal Anomalies, Microcephaly, Severe Mental Retardation, and Neurological Abnormalities." Journal of Medical Genetics, vol. 29, no. 7, 1992, pp. 500-2.
Woods CG, Crouchman M, Huson SM. Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities. J Med Genet. 1992;29(7):500-2.
Woods, C. G., Crouchman, M., & Huson, S. M. (1992). Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities. Journal of Medical Genetics, 29(7), 500-2.
Woods CG, Crouchman M, Huson SM. Three Sibs With Phalangeal Anomalies, Microcephaly, Severe Mental Retardation, and Neurological Abnormalities. J Med Genet. 1992;29(7):500-2. PubMed PMID: 1640433.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities. AU - Woods,C G, AU - Crouchman,M, AU - Huson,S M, PY - 1992/7/1/pubmed PY - 1992/7/1/medline PY - 1992/7/1/entrez SP - 500 EP - 2 JF - Journal of medical genetics JO - J Med Genet VL - 29 IS - 7 N2 - This paper describes three children of a Pakistani first cousin marriage with a distinctive, non-progressive disorder characterised by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, a characteristic face, and severe mental retardation. This combination of features seems to be distinct and to represent a new autosomal recessive syndrome. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/1640433/Three_sibs_with_phalangeal_anomalies_microcephaly_severe_mental_retardation_and_neurological_abnormalities_ DB - PRIME DP - Unbound Medicine ER -