Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype

Clinical Dysmorphology
M L Guion-Almeida, A Richieri-Costa

Abstract

We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].

References

Aug 1, 1992·American Journal of Medical Genetics·M L Guion-Almeida, A Richieri-Costa
May 1, 1989·American Journal of Medical Genetics·A Richieri-CostaT Y Kamiya

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Citations

Aug 21, 2009·Human Molecular Genetics·Hulya KayseriliNurten Ayse Akarsu
Jan 29, 2010·Human Molecular Genetics·Samantha A BrugmannJill A Helms
Apr 20, 2001·Clinical Dysmorphology·R M Winter
May 19, 2009·Clinical Dysmorphology·Ian M HayesSalim Aftimos
Sep 8, 2010·The Journal of Craniofacial Surgery·Gökhan TunçbilekKemal Benli
Sep 1, 2007·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Ernesto PepeGiuseppe Cinalli
Nov 12, 2013·European Journal of Medical Genetics·Hatice Koçak EkerAlain Verloes
Jun 13, 2013·European Journal of Human Genetics : EJHG·N Di DonatoA Verloes
Apr 15, 2009·American Journal of Medical Genetics. Part a·Maria Leine Guion-Almeida, Antonio Richieri-Costa
Apr 19, 2003·Clinical Genetics·J M Milunsky, D M Capin
Oct 24, 2007·American Journal of Medical Genetics. Part a·E WuA M Slavotinek
Nov 26, 2010·American Journal of Medical Genetics. Part a·Samantha A BrugmannJill A Helms
Jun 22, 2005·The Journal of the American Dental Association·Manuela M Haro MonteroJaime Sanchez del Pozo
Jul 24, 2014·European Journal of Human Genetics : EJHG·Alain VerloesDaniela T Pilz
Sep 15, 2016·Clinical Genetics·T M YatesD T Pilz
Nov 8, 2013·Journal of Child Neurology·Manuel Recio-RodríguezMar Jiménez-de-La-Peña
Feb 18, 2016·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Vanessa Benetello DaineziMarcia Ribeiro Gomide
Mar 30, 2005·Journal of Child Neurology·Kette D ValenteMarcelo Valente
Jun 27, 2020·American Journal of Medical Genetics. Part a·Kermit ZhangKelly Usrey
Jun 9, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Ibrahim VargelFigen Ozgur

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