title: Facial features and skeletal abnormalities in Larsen syndrome--a study of three generations of a Tunisian family.
abstract: We report on a 3 generation study of a Tunisian family, in which eight subjects had or have features of Larsen syndrome: three siblings, two females and one male are affected with flattened facies, multiple congenital joint dislocations, and club foot deformities. Five other family members were recognised as being variably affected with the syndrome. Over the three generations, despite the characteristic facial features being the most constant clinical signs of the syndrome, none of those still living had palatal clefts, the multiple infantile deaths in this family, however, were characterised by an association with cleft palate.
authors.affiliation: Sevice d'Orthopaedie infantile, Hopital d'Enfants de Tunis, Tunisia. Allawi.rem@planet.tn
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Kaissi
authors.forename: Chokri
authors.initials: C
authors.lastname: Ammar
authors.forename: Maher Ben
authors.initials: MB
authors.lastname: Ben Ghachem
authors.forename: Azza
authors.initials: A
authors.lastname: Hammou
authors.forename: Farid B
authors.initials: FB
authors.lastname: Chehida
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D008297:Male; D008875:Middle Aged; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012494:Sampling Studies; D013577:Syndrome; D014416:Tunisia