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.

Pre- and post-natal growth in two sisters with 3-M syndrome / Lugli, Licia; Bertucci, Emma; Mazza, Vincenzo; Elmakky, Amira; Ferrari, Fabrizio; Neuhaus, Christine; Percesepe, Antonio. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - ELETTRONICO. - 59:4(2016), pp. 232-236. [10.1016/j.ejmg.2016.01.009]

Pre- and post-natal growth in two sisters with 3-M syndrome

LUGLI, Licia;BERTUCCI, Emma;FERRARI, Fabrizio;PERCESEPE, Antonio
2016

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.
2016
59
4
232
236
Pre- and post-natal growth in two sisters with 3-M syndrome / Lugli, Licia; Bertucci, Emma; Mazza, Vincenzo; Elmakky, Amira; Ferrari, Fabrizio; Neuhaus, Christine; Percesepe, Antonio. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - ELETTRONICO. - 59:4(2016), pp. 232-236. [10.1016/j.ejmg.2016.01.009]
Lugli, Licia; Bertucci, Emma; Mazza, Vincenzo; Elmakky, Amira; Ferrari, Fabrizio; Neuhaus, Christine; Percesepe, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1107427
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