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.

Epidemiology

It has been described in three female sibs (including a fetus).

Clinical description

Dysmorphic features were not characteristic.

Genetic counseling

The condition seems to be hereditary, and transmitted as an autosomal recessive trait.

Prognosis

Prognosis is poor and all infants died in infancy.