PubMed · 4547940
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M O Rethoré, B Dutrillaux, G Giovannelli, A Forabosco, B Dallapiccola, J Lejeune. 1974. [Trisomy 4p].. https://pubmed.ncbi.nlm.nih.gov/4547940/
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A case of congenital lobar emphysema associated with pulmonary sequestration, presenting with respiratory distress in infancy, is reported. The lobar hyperinflation was managed by emergency lobectomy. The ipsilateral lower lobe affected with vascular sequestration was salvaged by therapeutic embolization, thus avoiding the long-term sequelae of pneumonectomy. The case is reported for its rarity.
We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593. The deletion contains not only the FOXL2 gene, but also the gene encoding ataxia-telangiectasia and Rad3-related protein (ATR). Mutations in FOXL2 have been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). ATR has been identified as a candidate gene for Seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. We hypothesize that our patient has a contiguous gene syndrome and that the non-BPES-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal ATR gene. However, it has not yet been excluded that haploinsufficiency of some other gene in this region plays a role.
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