Further delineation of the Yunis-Varon syndrome.
A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplastic facial bones, labiogingival retraction, agenesis of the clavicles, distal aphalangia, and severely hypoplastic thumbs and halluces is described. The features are consistent with the Yunis-Varon syndrome. Review of published reports shows this to be a generalised disorder with variable manifestations in the skeletal, ectodermal, and cardiovascular systems. The consanguinity of the parents of the present case is in agreement with autosomal recessive inheritance.
Hennekam
R C
RC
Clinical Genetics Center Utrecht, The Netherlands.
Vermeulen-Meiners
C
C
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005147:Facial Bones / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome