Microcephaly-cardiac defect-lung malsegmentation syndrome

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.


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PMID (PMCID)