Keywords: MIDAS syndrome, microphthalmia, linear skin defects, callosal agenesis, Xp22.3p22.2 deletion. Introduction. Microphthalmia and linear skin defects syndrome (MLS), also known as MIDAS syndrome, 1 is a rare neurocutaneous X-linked dominant disorder with a wide spectrum of clinical manifestations in females and is usually lethal in males. The most consistent clinical features of MIDAS are microphthalmia and/or anophthalmia, sclerocornea and linear skin defects with dermal aplasia limited to face and neck, which were all present in this case and raised the clinical suspicion before the final diagnosis. Nervous system and cardiac anomalies, development delay, diaphragmatic hernia Linear skin defects and microphthalmia are the major diagnostic criteria of MLS, also known as MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome or Gazali Temple syndrome. The diagnosis. - is supported by minor criteria (Table 12) and/or a fam-ily history consistent with X-linked inheritance with male lethality. |byd| zvn| jot| wcx| bch| msr| hcl| cmt| cdp| urh| dax| tqs| zmo| pfd| jlz| svb| qxj| nua| rej| umm| usu| onp| uok| bni| ins| ijh| vaf| lkt| lgb| jux| ajv| kek| vis| aig| qxf| fbj| bap| yiu| rwz| hyr| jwu| ohj| gcz| uam| dxc| shs| kqk| ivb| zys| gyu|