Cloverleaf Skull-Multiple Congenital Anomalies Syndrome

This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.

Epidemiology

It has been described in three sibs from one family.

Clinical description

Dysmorphic features include protruding forehead, hypertelorism, broad nasal bridge, wide anterior fontanel, short philtrum, downturning mouth, micrognathia and low-set ears. The limbs show rhizomelic shortening. Additional malformations are not constant: omphalocele, bilateral microphthalmia, cataract, narrow chest, ambiguous genitalia, cardiac ventricular septal defect and agenesis of the corpus callosum

Antenatal diagnosis

Antenatal diagnosis is possible by ultrasonographic monitoring.

Genetic counseling

The condition seems to be inherited as an autosomal recessive trait.

Prognosis

Prognosis is poor.