title: Pre- and post-natal growth in two sisters with 3-M syndrome.
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.
authors: Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy.
authors: Licia
authors: L
authors: Lugli
authors: Prenatal Diagnosis Unit, Department of Mother and Child, University Hospital of Modena, Italy.
authors: Emma
authors: E
authors: Bertucci
authors: Prenatal Diagnosis Unit, Department of Mother and Child, University Hospital of Modena, Italy.
authors: Vincenzo
authors: V
authors: Mazza
authors: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy.
authors: Amira
authors: A
authors: Elmakky
authors: Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy.
authors: Fabrizio
authors: F
authors: Ferrari
authors: Center for Human Genetics, Bioscientia, Ingelheim, Germany.
authors: Christine
authors: C
authors: Neuhaus
authors: Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy. Electronic address: percesepe.antonio@unimo.it.
authors: Antonio
authors: A
authors: Percesepe
mesh_terms: D044842:Cullin Proteins / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D031221:Knee Dislocation / Q000235:genetics / Q000473:pathology; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D035781:Siblings; D013131:Spine / Q000002:abnormalities* / Q000473:pathology
chemical_list: C506299:CUL7 protein, human; D044842:Cullin Proteins
keywords: 3-M syndrome; CUL7; Dwarfism; Knee dislocations