title: Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
abstract: Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.
authors.affiliation: Department of Medical Genetics and Foetopathology, Hôpital d'Enfants de la Timone, Marseilles, France.
authors.forename: S
authors.initials: S
authors.lastname: Sigaudy
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: A
authors.initials: A
authors.lastname: Moncla
authors.forename: C
authors.initials: C
authors.lastname: Fredouille
authors.forename: B
authors.initials: B
authors.lastname: Bourlière
authors.forename: S
authors.initials: S
authors.lastname: Ayme
authors.forename: N
authors.initials: N
authors.lastname: Philip
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000473:pathology*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography