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Eur J Med Genet. 2016 Apr;59(4):232-6. doi: 10.1016/j.ejmg.2016.01.009. Epub 2016 Feb 2.

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

Author information

1
Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy.
2
Prenatal Diagnosis Unit, Department of Mother and Child, University Hospital of Modena, Italy.
3
Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy.
4
Center for Human Genetics, Bioscientia, Ingelheim, Germany.
5
Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy. Electronic address: percesepe.antonio@unimo.it.

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.

KEYWORDS:

3-M syndrome; CUL7; Dwarfism; Knee dislocations

PMID:
26850509
DOI:
10.1016/j.ejmg.2016.01.009
[Indexed for MEDLINE]

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