Mikati-Najjar-Sahli Syndrome

Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).

Epidemiology

It has been described in five siblings (three males and two females) born to consanguineous parents.

Clinical description

Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported.

Genetic counseling

The mode of transmission appears to be autosomal recessive.