Association of distal arthrogryposis, mental retardation, whistling face, and pierre robin sequence: Evidence for nosologic heterogeneity

✍ Scribed by Schrander-Stumpel, Constance ;Fryns, Jean Pierre ;Beemer, Frits A. ;Rive, Frans A.

• Publisher: John Wiley and Sons
• Year: 1991
• Tongue: English
• Weight: 497 KB
• Volume: 38
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320380412

✦ Synopsis

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 19:186-1921, where calcium deposits were found i n 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.