TY - JOUR
T1 - The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics
AU - Vilchis, Zacil
AU - Najera, Nayelli
AU - Pérez-Duran, Javier
AU - Najera, Zenyesen
AU - Gonzalez, Lourdes
AU - del Refugio Rivera, Maria
AU - Queipo, Gloria
PY - 2014/7
Y1 - 2014/7
N2 - Neonatal hypotonia is a relatively common cause of consultation in daily pediatric practice. It is part of the clinical presentation of a large group of heterogeneous diseases, many of which have an important and classifiable genetic background. Identification of the specific disorder can help optimize the management and treatment of the patient and inform genetic counseling for the family, and therefore input from clinical geneticists is critical at the earliest stages of medical management. Here we present 30 patients with hypotonia of unknown etiology referred by a neuropediatrician to clinical genetics. Clinical, genetic, and molecular evaluation of each patient was performed. Sixty-nine percent of the patients included in the study had a genetic disease, including eight with Prader-Willi syndrome, three with spinal muscular atrophy, one with Rett syndrome, and one with Sotos syndrome harboring a previously undescribed mutation. Our data demonstrate that a multidisciplinary approach used from the outset that includes molecular analysis can help improve diagnosis and management of hypotonic infants.
AB - Neonatal hypotonia is a relatively common cause of consultation in daily pediatric practice. It is part of the clinical presentation of a large group of heterogeneous diseases, many of which have an important and classifiable genetic background. Identification of the specific disorder can help optimize the management and treatment of the patient and inform genetic counseling for the family, and therefore input from clinical geneticists is critical at the earliest stages of medical management. Here we present 30 patients with hypotonia of unknown etiology referred by a neuropediatrician to clinical genetics. Clinical, genetic, and molecular evaluation of each patient was performed. Sixty-nine percent of the patients included in the study had a genetic disease, including eight with Prader-Willi syndrome, three with spinal muscular atrophy, one with Rett syndrome, and one with Sotos syndrome harboring a previously undescribed mutation. Our data demonstrate that a multidisciplinary approach used from the outset that includes molecular analysis can help improve diagnosis and management of hypotonic infants.
KW - Hypotonia
KW - Prader-Willi syndrome
KW - Rett syndrome
KW - Sotos syndrome
UR - http://www.scopus.com/inward/record.url?scp=84902553530&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36543
DO - 10.1002/ajmg.a.36543
M3 - Artículo
SN - 1552-4825
VL - 164
SP - 1702
EP - 1705
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 7
ER -