BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. CASE: A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. CONCLUSIONS: Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.
BACKGROUND:Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. CASE: A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. CONCLUSIONS: Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.
Authors: Danielle A Callaway; Ian M Campbell; Samantha R Stover; Andres Hernandez-Garcia; Shalini N Jhangiani; Jaya Punetha; Ingrid S Paine; Jennifer E Posey; Donna Muzny; Kevin P Lally; James R Lupski; Chad A Shaw; Caraciolo J Fernandes; Daryl A Scott Journal: J Pediatr Genet Date: 2018-05-30
Authors: Nelson LopezJimenez; Simon Gerber; Vlad Popovici; Sonia Mirza; Kirsten Copren; Linda Ta; Gary M Shaw; Beat Trueb; Anne M Slavotinek Journal: Hum Genet Date: 2009-12-19 Impact factor: 4.132
Authors: Mauro Longoni; Frances A High; Meaghan K Russell; Alireza Kashani; Adam A Tracy; Caroline M Coletti; Regis Hila; Ahmed Shamia; Julie Wells; Kate G Ackerman; Jay M Wilson; Carol J Bult; Charles Lee; Kasper Lage; Barbara R Pober; Patricia K Donahoe Journal: Proc Natl Acad Sci U S A Date: 2014-08-08 Impact factor: 11.205