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A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency.
Birth Defects Orig Artic Ser. 1977; 13(3B):69-84.BD

Abstract

A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

890101

Citation

Weaver, D D., and C P. Williams. "A Syndrome of Microcephaly, Mental Retardation, Unusual Facies, Cleft Palate, and Weight Deficiency." Birth Defects Original Article Series, vol. 13, no. 3B, 1977, pp. 69-84.
Weaver DD, Williams CP. A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency. Birth Defects Orig Artic Ser. 1977;13(3B):69-84.
Weaver, D. D., & Williams, C. P. (1977). A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency. Birth Defects Original Article Series, 13(3B), 69-84.
Weaver DD, Williams CP. A Syndrome of Microcephaly, Mental Retardation, Unusual Facies, Cleft Palate, and Weight Deficiency. Birth Defects Orig Artic Ser. 1977;13(3B):69-84. PubMed PMID: 890101.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency. AU - Weaver,D D, AU - Williams,C P, PY - 1977/1/1/pubmed PY - 1977/1/1/medline PY - 1977/1/1/entrez SP - 69 EP - 84 JF - Birth defects original article series JO - Birth Defects Orig Artic Ser VL - 13 IS - 3B N2 - A brother and sister with a distinctive, apparently previously undescribed dysmorphic/mental retardation syndrome are presented. The major features of their condition include moderate-to-severe mental retardation, microcephaly, weight deficiency, prominent ears, midfacial hypoplasia, small mouth, cleft palate, clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. Of these, the most prominent physical feature is the weight deficiency which is most likely the result of a decrease in muscle, bone, brain and subcutaneous tissue mass. No underlying biochemical defect, chromosome abnormality, environmental agent or infection has been found to explain this condition. An autosomal recessive mode of inheritance is suggested. SN - 0547-6844 UR - https://www.unboundmedicine.com/medline/citation/890101/A_syndrome_of_microcephaly_mental_retardation_unusual_facies_cleft_palate_and_weight_deficiency_ L2 - https://www.diseaseinfosearch.org/result/4607 DB - PRIME DP - Unbound Medicine ER -