Article
Pre- and post-natal growth in two sisters with 3-M syndrome.
European journal of medical genetics - 1 Apr 2016
Lugli Licia, Bertucci Emma, Mazza Vincenzo, Elmakky Amira, Ferrari Fabrizio, Neuhaus Christine, Percesepe Antonio
Abstract excerpt
3-M syndrome (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pre- and post-natal growth restriction, associated with minor skeletal abnormalities and dysmorphisms. Although the 3-M syndrome is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. We report a family with variable phenotypic features of 3-M syndrome and we describe the prenatal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.