Fronto-facio-nasal dysplasia

We report a new case of frontofacionasal dysplasia or dysostosis (FFND) with a 1.5 Mb duplication in the region of 7p15.2-p15.1… (More)

Frontofacionasal dysplasia or dysostosis (Mendelian Inheritance in Man 229400) is composed of cranial, ophthalmic, nasal, and lip… (More)

We describe a newborn boy one of triplets, whose karyotype was 46,XY, t(8;12)(q22;q21). Prenatal diagnosis of multiple… (More)

We report an adult male patient born to normal and non-consanguineous parents with midline craniofacial defects associated with… (More)

We describe two patients with neuraligic amyotrophia of the shoulder: a 15 year old boy and a girl which was 6 years old at the… (More)

A boy is presented with frontofacionasal dysplasia. The severity of his malformations exceeds that encountered in the cases… (More)

We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by… (More)