title: New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.
abstract: We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion.
authors.affiliation: Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA. cathy.stevens@erlanger.org
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Stevens
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D003616:Dandy-Walker Syndrome / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities*