Chudley-Rozdilsky Syndrome

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Synonyms

CHUDLEY SYNDROME, Chudley Rozdilsky syndrome, Chudley syndrome

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Introduction

A rare congenital myopathy syndrome characterised by nonprogressive myopathy (manifesting with mild facial and generalised weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.

In 1990 Marles and Chudley reported on an infant with absent ulnae and concomitant radial hypoplasia, oligodactyly, hydropsfetalis, and apparent endocardial fibroelastosis (EFE) and, on the basis of phenotype and parental consanguinity, postulated autosomal recessive inheritance. Recently we were privileged to study parts of a fetus who had presented at ultrasonography with cardiac calcifications, micrognathia, and severe ulnar dysgenesis. The small pieces of heart we received showed neither endocardial fibroelastosis nor calcifications. Thus, we had initial doubts that we were dealing with the Marles-Chudley syndrome. However, a review by Chudley of the heart findings in his cases did show the calcifications usually seen in primary or secondary EFE. The parents of Dr. Chudley's patient were Flipino; the father of our patient was a Samoan. This suggests that there exists a gene for autosomal recessive Marles-Chudley syndrome in the Poynesian population with pleiotropic effects on upper limb development and cardiac histogenesis.

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