Literature DB >> 2614801

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.

D P Cavalcanti1.   

Abstract

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.

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Year:  1989        PMID: 2614801      PMCID: PMC1015764          DOI: 10.1136/jmg.26.12.785

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient.

Authors:  J P Fryns; P Moerman
Journal:  J Med Genet       Date:  1988-07       Impact factor: 6.318

2.  Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

Authors:  I D Young; K Simpson
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

  2 in total
  3 in total

1.  Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Authors:  A Moncla; N Philip; J F Mattei
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

2.  Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

Authors:  D T Bonthron; K M Barlow; A M Burt; D G Barr
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

3.  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Authors:  Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F Palafox; Angela Wei; Kathryn Elliott; Dana H Goodloe; S Joy Dean; Catherine Gooch; Brianna K Murray; Erin Swartz; Samantha A Schrier Vergano; Meghan C Towne; Kimberly Nugent; Elizabeth R Roeder; Christina Kresge; Beth A Pletcher; Katheryn Grand; John M Graham; Ryan Gates; Natalia Gomez-Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J Benke; Julie S Cohen; Ali Fatemi; Weiyi Mu; Kristin W Baranano; Jill A Madden; Cynthia S Gubbels; Timothy W Yu; Pankaj B Agrawal; Mary-Kathryn Chambers; Chanika Phornphutkul; John A Pugh; Kate A Tauber; Svetlana Azova; Jessica R Smith; Anne O'Donnell-Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N Schweitzer; Valerie A Arboleda
Journal:  Mol Genet Genomic Med       Date:  2021-09-14       Impact factor: 2.183

  3 in total

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