TY - JOUR
T1 - Nissen fundoplication in Cornelia de Lange syndrome spectrum
T2 - Who are the potential candidates?
AU - Parma, Barbara
AU - Cianci, Paola
AU - Mariani, Milena
AU - Cereda, Anna
AU - Panceri, Roberto
AU - Fossati, Chiara
AU - Maestri, Luciano
AU - Macchini, Francesco
AU - Onesimo, Roberta
AU - Zampino, Giuseppe
AU - Betalli, Pietro
AU - Cheli, Maurizio
AU - Selicorni, Angelo
PY - 2020
Y1 - 2020
N2 - Cornelia de Lange spectrum (CdLSp) is a rare genetic condition characterized by intellectual disability, facial dysmorphisms, major malformations, growth impairment, and development delay. Approximately 80% of CdLSp patients have gastroesophageal reflux disease (GERD) with a varied clinical presentation. The aim of this study is to define potential clinical/genetic risk factors based on the clinical phenotype description of CdLSp patients with severe GERD who underwent surgical treatment. We retrospectively collected data from 23 CdLSp patients, 13 females and 10 males. Mean age of the patients undergoing surgical treatment was of 4 years. 21/23 (91%) had a molecular characterization, of which 21/21 (100%) had a NIPBL gene mutation, while 2/23 (9%) did not have a genetical characterization, only a clinical diagnosis. Most of our patients presented a moderate–severe severity score (21/23, 91%) with limb malformations evidenced in 10/23 (44%) of our patients and a moderate–severe intellectual disability in 20/23 (87%). Therefore, CdLSp patients harboring NIPBL variants, upper limb malformations and severe psychomotor delay are more likely to suffer from severe GERD, not responsive to proton pump inhibitors treatment. These features should be considered as clinical markers for potentially severe GERD that might require surgical treatment.
AB - Cornelia de Lange spectrum (CdLSp) is a rare genetic condition characterized by intellectual disability, facial dysmorphisms, major malformations, growth impairment, and development delay. Approximately 80% of CdLSp patients have gastroesophageal reflux disease (GERD) with a varied clinical presentation. The aim of this study is to define potential clinical/genetic risk factors based on the clinical phenotype description of CdLSp patients with severe GERD who underwent surgical treatment. We retrospectively collected data from 23 CdLSp patients, 13 females and 10 males. Mean age of the patients undergoing surgical treatment was of 4 years. 21/23 (91%) had a molecular characterization, of which 21/21 (100%) had a NIPBL gene mutation, while 2/23 (9%) did not have a genetical characterization, only a clinical diagnosis. Most of our patients presented a moderate–severe severity score (21/23, 91%) with limb malformations evidenced in 10/23 (44%) of our patients and a moderate–severe intellectual disability in 20/23 (87%). Therefore, CdLSp patients harboring NIPBL variants, upper limb malformations and severe psychomotor delay are more likely to suffer from severe GERD, not responsive to proton pump inhibitors treatment. These features should be considered as clinical markers for potentially severe GERD that might require surgical treatment.
KW - Cornelia de Lange spectrum
KW - gastroesophageal reflux disease
KW - Nissen fundoplication
KW - proton pump inhibitors
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U2 - 10.1002/ajmg.a.61625
DO - 10.1002/ajmg.a.61625
M3 - Article
C2 - 32436647
AN - SCOPUS:85085003225
VL - 182
SP - 1697
EP - 1703
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -