Ocular pathology of the Majewski syndrome.

نویسندگان

  • J Chess
  • D M Albert
چکیده

The association of lethal neonatal dwarfism, narrow thorax, and polydactyly is well established in the older literature particularly from the syndromes described by Jeune and Ellis-Van Creveld.' There has been renewed interest in this subject and the classification of short rib polydactyly since Majewski et al. described the features of a lethal congenital syndrome characterised by short ribs and limbs, polysyndactyly, median cleft lip, and anomalies of the epiglottis, visceral organs and genitalia.5 Subsequent recognition of clinical and radiological differences became apparent as additional cases were studied and gave rise to the reclassification of short rib polydactyly (SRP) to include type I of Majewski and type II of Saldino-Noonan.6 Additional reports have demonstrated other variants of this condition, several of which may also be distinct forms.'-`6 Necropsy reports have been conspicuous for the absence of information on the ophthalmic findings in these cases. We present here the ocular histopathological findings in the Majewski type of SRP and discuss the differential diagnosis and clinicopathological features of this disease group. Heightened awareness of neonatal dwarfism syndromes may lead to the gathering of more information on the ophthalmic aspects of SRP.

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عنوان ژورنال:
  • The British journal of ophthalmology

دوره 66 11  شماره 

صفحات  -

تاریخ انتشار 1982