Abstract
The 3-M syndrome is a rare autosomal recessive disorder. It is characterized by prenatal and postnatal growth retardation associated with characteristic features. In this study, we report on three patients from two unrelated families, including two male sibs, with the characteristic features and radiological findings of the 3-M syndrome. The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short broad neck, broad chest with transverse grooves of anterior thorax and hyperlordosis. An orodental examination revealed characteristic findings, some of which were not reported before. Prominent premaxilla, hypoplastic maxilla, thick patulous lips, high-arched palate, median fissured tongue, delayed eruption of teeth with enamel hypocalcification and malocclusion were present in our three studied cases. Radiographic studies showed slender long bones and ribs, a narrow pelvis and foreshortened vertebral bodies. Our reported cases are the offspring of healthy consanguineous parents, confirming the autosomal recessive pattern of inheritance in the syndrome. Cases were reported from different countries all over the world. To our ...Continue Reading
References
Sep 1, 1976·European Journal of Pediatrics·J SprangerA Nourmand
Jun 1, 1992·Journal of Medical Genetics·R F MuellerG M Towns
Mar 1, 1991·Journal of Medical Genetics·M Le MerrerP Maroteaux
Sep 1, 1989·Journal of Medical Genetics·M FeldmannC Marchal
Feb 1, 1989·American Journal of Medical Genetics·D B Flannery
Sep 1, 1987·American Journal of Medical Genetics·R C HennekamJ Spranger
Jan 1, 1972·Humangenetik·U Winkler
Apr 1, 1984·Journal of Medical Genetics·R M WinterC M Hall
Oct 1, 1981·American Journal of Diseases of Children·J M CantúZ Nazará-Cazorla
Nov 17, 1995·Cell·N A EllisJ German
Nov 1, 1994·Journal of Medical Genetics·R C HennekamG Pals
Oct 16, 1999·American Journal of Human Genetics·N A EllisJ German
Jan 13, 2000·American Journal of Human Genetics·D MonkG E Moore
Jul 13, 2000·American Journal of Human Genetics·J GoodshipM Wright
Sep 15, 2000·Human Genetics·C A JoyceI K Temple
Dec 13, 2000·Prenatal Diagnosis·F MeoV D'Addario
Aug 31, 2001·Biochemical and Biophysical Research Communications·J A McCannC Polychronakos
Oct 23, 2001·Clinical Dysmorphology·G van der WalI van der Burgt
Jan 10, 2002·European Journal of Human Genetics : EJHG·A D BørglumJ M Hertz
Feb 22, 2002·Prenatal Diagnosis·Mahesh ChoolaniNicholas M Fisk
Aug 14, 2002·Journal of Paediatrics and Child Health·I MarikK Kozlowski
Nov 29, 2002·American Journal of Medical Genetics·Alison M ElliottRalph S Lachman
Mar 18, 2003·Nature Genetics·Mark O'DriscollJudith A Goodship
May 20, 2003·Human Mutation·P JagielloM Gencik
Oct 23, 2003·European Journal of Human Genetics : EJHG·Mehmet Okyay KilinçAslihan Tolun
Sep 6, 2005·Nature Genetics·Céline HuberValérie Cormier-Daire
Citations
Mar 3, 2011·European Journal of Human Genetics : EJHG·Muriel Holder-EspinasseValérie Cormier-Daire
Aug 1, 2013·European Journal of Human Genetics : EJHG·Muriel Holder-EspinasseValérie Cormier-Daire
Aug 7, 2007·Journal of Medical Genetics·N MaksimovaO Onodera
Jun 26, 2010·Journal of Medical Genetics·Nadezda MaksimovaOsamu Onodera
Sep 14, 2011·Journal of Clinical Research in Pediatric Endocrinology·Ayla Güven, Ayşe Nurcan Cebeci
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·Céline HuberValerie Cormier-Daire
May 14, 2011·American Journal of Medical Genetics. Part a·Michael J ParkerNicholas J Bishop
May 26, 2012·Clinical Endocrinology·Peter E ClaytonGraeme C M Black
May 7, 2011·American Journal of Medical Genetics. Part a·Nadia A AkawiLihadh Al-Gazali
May 7, 2015·Endocrinology, Diabetes & Metabolism Case Reports·A DeebA El Fatih
Jul 9, 2011·American Journal of Human Genetics·Dan HansonGraeme C M Black
Jun 2, 2009·American Journal of Human Genetics·Dan HansonPeter E Clayton
Jul 5, 2017·Hormone Research in Pædiatrics·Lihong LiaoAndrew Dauber
Dec 10, 2008·Genetika·V P Puzyrev, N R Maksimova
Apr 14, 2019·American Journal of Medical Genetics. Part a·Pelin Ozlem Simsek-KiperKoray Boduroglu
Nov 10, 2013·Proceedings. Mathematical, Physical, and Engineering Sciences·Michael DeeChristopher Bronk Ramsey
Mar 9, 2019·Annual Review of Genomics and Human Genetics·Samia A Temtamy