The lethal multiple pterygium syndrome: a nosological approach

The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently hydrops and/or hygroma colli. In this paper, we review 36 published cases, discuss the clinical features, pathogenesis, differential diagnosis and mode(s) of inheritance. Most cases were diagnosed in the second trimester of pregnancy by hydrops/hygroma colli at ultrasonography and/or stillbirth. Pterygia were present in two or more body areas overlying predominantly the large joints; joint contractures always accompany the pterygia. Facial features are: hypertelorism, antimongoloïd slanting of the palpebral fissures, flattened nasal bridge with hyproplastic nasal alae, micrognathia and cleft palate. Lung hypoplasia is the rule. Except for hypoplastic bones there were no consistent radiological findings. Cerebral abnormalities were occasionally found; muscular atrophy was mentioned in a number of cases. Chromosome abnormalities were never reported. Based on clinical presentation we propose an "early type" of LMPS and a "late type" of LMPS. Besides, we consider the cases described by Herva as a separate "Finnish type" LMPS. We found an excess of male cases, especially in young fetuses. LMPS is known as an autosomal recessive inherited trait. X-linked recessive inheritance however cannot be excluded in an isolated male case or in a sibship with males only. The Finnish type of LMPS appears to be an autosomal recessive trait.