Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
Am J Med Genet. 1998 Oct 30; 80(1):16-24.AJ

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.

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Authors+Show Affiliations

Sigaudy S
Department of Medical Genetics and Foetopathology, Hôpital d'Enfants de la Timone, Marseilles, France.
Toutain A
No affiliation info available
Moncla A
No affiliation info available
Fredouille C
No affiliation info available
Bourlière B
No affiliation info available
Ayme S
No affiliation info available
Philip N
No affiliation info available

MeSH

Abnormalities, MultipleDwarfismFemaleHumansInfant, NewbornMaleMicrocephalyOsteochondrodysplasiasRadiography

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

9800907