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Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. Variable abnormalities included focal or regional cortical dysplasia, cataracts, and hypospadius. We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH, and we review the expanding number of syndromes associated with BPNH.

Introduction: The purposes of this study were to develop an instructional leaflet on home video recording for the General Movement Assessment (GMA) and to examine the concurrent and predictive validity of the GMA completed by physical therapists (PTs) and completed by parents., Methods: The GMA and the Alberta Infant Motor Scale (AIMS) were completed by PTs in the clinic. Parents completed the GMA following the instructional leaflet., Results: The content validity of the leaflet was 0.83. The consistency of the GMA results between sources was κ = 0.869. The concurrent validity of the GMA at a corrected age of 3 months was κ = 0.266 (PT) versus 0.525 (parent) using the 10th-percentile cutoffs of the AIMS. The positive likelihood ratio was 26 (PT) versus 25 (parents) at a corrected age of 12 months based on 5th-percentile cutoffs of the AIMS., Conclusions: Home GMA videos are valid for clinical assessment following the instructional leaflet.