Pediatr Radiol (1988) 18:88 Pediatric Radiology © Springer-Verlag 1988

Letter to the Editor

Pulmonary emphysema in neonate with the Marfan syndrome

Dear Sir, We read with interest the report by Dr. Day and Dr. Burke

concerning pulmonary emphysema in a neonate with the Marfan syndrome [1]. However, we feel that the case for Marfan syn- drome is not convincing, mainly because the clinical description is very inadequate.

We would like to draw the attention of the authors to the rec- ommendation of Pyeritz and McKusick [2] in cases where the family history is negative. Arachnodactyly and joint laxity are not acceptable criteria on their own. Joint laxity is the norm rath- er than the exception in the premature infant. The length of the baby and measurements of fingers and palms are not recorded [3] making the diagnosis of arachnodactyly extremely unconvincing. Ophthalmological examination could have been performed at post mortem. The paternal age should have been included as new dominant mutations are more common with increasing pa- ternal age.

The description of scalloped pinnae and joint contractures is more typical of contractural arachnodactyly than the Marfan syndrome, but pulmonary emphysema is not common in either syndrome at such a young age. This case may well represent a previously undescribed syndrome. Unfortunately it is not possi- ble to form concrete conclusions because of the inadequate clini- cal description and lack of photographic documentation of the

phenotype. The finding of emphysema, whilst of interest, may have little to do with the Marfan syndrome in this infant.

Yours truly, S. Bamforth and M.R. Hayden

References

1. Day DL, Burke BA (1986) Pulmonary emphysema in a neo- nate with Marfan syndrome. Pediatric Radiol 16:5t8-521

2. Pyeritz RE, McKusick VA (1979) The Marfan syndrome N Engl J Med 300:772-777

3. Merlob P, Sivan Y, Reisner SH (1984) Anthropometric mea- surements of the newborn infant (27 to 41 gestational weeks). New Ybrk: The National Foundation - March of Dimes. Birth Defects Vot 20, No 7

Dr. S. Bamforth University of British Columbia Clinical Genetics Unit 4490 Oak Street Vancouver, BC V6H 3V5 Canada

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