title: Association of distal arthrogryposis, mental retardation, whistling face, and Pierre Robin sequence: evidence for nosologic heterogeneity.
abstract: We report on 3 unrelated patients with the heterogeneous fetal hypokinesia sequence. They have distal arthrogryposis, severe developmental retardation, facial anomalies as seen in the Freeman-Sheldon syndrome ("whistling face"), and Pierre Robin sequence. The present cases show a remarkable clinical resemblance to the 3 sibs described by Illum et al. (Illum N, Reske-Nielsen E, Skovby F, Askjaer SA, Bersen A (1988): Neuropediatrics 19:186-192), where calcium deposits were found in the nervous system and skeletal muscle. The presence of severe to profound developmental retardation in the present 3 patients is equally in favour of a central nervous system abnormality as the pathogenetic basis of the fetal hypokinesia sequence with secondary facial changes and distal arthrogryposis.
authors.affiliation: Department of Clinical Genetics, Academical Hospital Maastricht, State University of Limburg, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: F A
authors.initials: FA
authors.lastname: Rive
mesh_terms: D001176:Arthrogryposis / Q000235:genetics*; D002869:Chromosome Aberrations; D005149:Facial Expression; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics*