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:(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
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:(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
File in questo prodotto:
File Dimensione Formato  
3M syndrome.pdf

Accesso riservato

Descrizione: articolo principale
Tipologia: Versione pubblicata dall'editore
Dimensione 741.41 kB
Formato Adobe PDF
741.41 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1107427
Citazioni
  • ???jsp.display-item.citation.pmc??? 4
  • Scopus 12
  • ???jsp.display-item.citation.isi??? 10
social impact