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Mild Wolf-Hirschhorn phenotype and partial gh deficiency in a patient with a 4p terminal deletion

✍ Scribed by Titomanlio, L. ;Romano, A. ;Conti, A. ;Genesio, R. ;Salerno, M. ;De Brasi, D. ;Nitsch, L. ;Del Giudice, E.

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 123 KB
Volume: 127A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20667

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## Abstract We describe two unrelated patients with cytogenetically visible deletions of 21q22.2‐q22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downward‐slanting palpebral fissures, depressed nasal bridge, small nose wi