A Case Report of Lethal Multiple Pterygium Syndrome

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  • Case Report of Lethal Multiple Pterygiu

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ABSTRACT We report a patient with a lethal multiple pterygium syndrome. The patient was the first child born to a 28-year old mother. The family history was unremarkable; no consanguinity was reported. The patient was the product of a 37-week gestation by cesarian section, and admitted to our intensive care unit after resuscitation. He weighed 2,158 g, and measured 33cm (CHL). The patient had hydrops, cystic hygroma on the back of the neck, hypertelorism, a flat upturned nose, a highly arched cleft palate, micrognathia, low set ears and multiple pterygia. In addition, the finger showed slender and hypoplastic ridges and creases. The feet showed rocker-bottom deformities. Furthermore, the genitalia was normally formed male with bilateral cryptorchism. The spine showed scoliosis and lordosis with vertebral bony fusions, separations and reduced intervertebral spaces. The ribs were 11 pairs and gracile. The lung was hypoplastic, and the heart was small but normal in structure. Chromosomal examination revealed a normal male karyotype (46, XU). The infant died within two hours after birth. Gillin and Pryse-Davis (1976) described three female siblings with this early lethal disorder. This disorder was separated from other conditions associated with pterygia by Hall et al. (1982). At least 30 cases have been reported. However, this type of case seems to have not been reported in Japan. This disorder is considered autosomal-recessive, but in other report, X-linked recessive inheritance is proposed. Therefore, further studies are necessary in order to make a more precise etiology of this disorder.

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