1. Pre- and post-natal growth in two sisters with 3-M syndrome.
- Author
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Lugli, Licia, Bertucci, Emma, Mazza, Vincenzo, Elmakky, Amira, Ferrari, Fabrizio, Neuhaus, Christine, and Percesepe, Antonio
- Subjects
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DWARFISM , *MUSCLE dysmorphia , *SISTERS , *FETAL development , *SKELETAL abnormalities , *GENETIC mutation , *DISEASES - Abstract
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 and postnatal growth pattern of two affected sisters with a novel homozygous CUL7 mutation (c.3173-1G>C), showing a pre- and post-natal growth deficiency and a normal cranial circumference. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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