3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

Cristina Meazza, Ekkehard Lausch, Sara Pagani, Elena Bozzola, Valeria Calcaterra, Andrea Superti-Furga, Margherita Silengo, Mauro Bozzola

Research output: Contribution to journalArticle

Abstract

3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome.Here we describe the growth and evolution of dismorphic features of an Italian boy with 3-M syndrome and growth hormone deficiency (GHD) from birth until adulthood. He was born full term with a very low birth weight (2400 g=-3.36 standard deviation score, SDS) and length (40.0 cm =-6.53 SDS). At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax and long slender bones. Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of 3-M syndrome was made; this was also confirmed by the finding of a homozygous deletion in exon 18 of the CUL7 gene, which has not been previously described.The patient also exhibited severe GHD (GH

Original languageEnglish
Article number21
JournalItalian Journal of Pediatrics
Volume39
Issue number1
DOIs
Publication statusPublished - 2013

Keywords

  • 3-M syndrome
  • CUL-7 gene mutation
  • Growth hormone deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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