A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency

David Weaver, C. P S Williams

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)69-84
Number of pages16
JournalBirth Defects: Original Article Series
Volume13
Issue number3 B
StatePublished - 1977

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Microcephaly
Cleft Palate
Intellectual Disability
Weights and Measures
Bone and Bones
Subcutaneous Tissue
Chromosome Aberrations
Fingers
Ear
Mouth
Muscles
Brain
Infection

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

Cite this

A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency. / Weaver, David; Williams, C. P S.

In: Birth Defects: Original Article Series, Vol. 13, No. 3 B, 1977, p. 69-84.

Research output: Contribution to journalArticle

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