Literature DB >> 7522397

Infant with multiple congenital anomalies and deletion (9)(q34.3).

L A Schimmenti1, S A Berry, M Tuchman, B Hirsch.   

Abstract

We report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down-slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3.

Entities:  

Mesh：

Year:  1994        PMID： 7522397     DOI： 10.1002/ajmg.1320510211

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

Review 1.  A report of a child with a deletion (9)(q34.3): a recognisable phenotype?

Authors:  H Ayyash; R Mueller; E Maltby; P Horsfield; N Telford; R Tyler
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Update on Kleefstra Syndrome.

Authors:  M H Willemsen; A T Vulto-van Silfhout; W M Nillesen; W M Wissink-Lindhout; H van Bokhoven; N Philip; E M Berry-Kravis; U Kini; C M A van Ravenswaaij-Arts; B Delle Chiaie; A M M Innes; G Houge; T Kosonen; K Cremer; M Fannemel; A Stray-Pedersen; W Reardon; J Ignatius; K Lachlan; C Mircher; P T J M Helderman van den Enden; M Mastebroek; P E Cohn-Hokke; H G Yntema; S Drunat; T Kleefstra
Journal:  Mol Syndromol       Date:  2012-01-24
  2 in total

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