Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder of marrow failure syndrome and exocrine pancreatic dysfunction with an estimated incidence of 1/76,000. When present, characteristic skeletal abnormalities are strongly suggestive of SDS but most often they are seen during childhood and adolescence. We present a case of preterm twins with prenatal diagnosis of thoracic hypoplasia and a clinical evolution that lead to an early diagnosis of SDS. This report highlights the importance of a high index of suspicion for SDS in case of neonatal thoracic hypoplasia.
Division of Neonatology, Section of Pediatrics, Medical Translational Sciences, University "Federico II", Naples, Italy.
Letizia
L
Capasso
Division of Neonatology, Section of Pediatrics, Medical Translational Sciences, University "Federico II", Naples, Italy.
Angela Carla
AC
Borrelli
Division of Neonatology, Section of Pediatrics, Medical Translational Sciences, University "Federico II", Naples, Italy.
Julia
J
Cerullo
Division of Neonatology, Section of Pediatrics, Medical Translational Sciences, University "Federico II", Naples, Italy.
Maria Rosaria
MR
Pirozzi
Division of Neonatology, Section of Pediatrics, Medical Translational Sciences, University "Federico II", Naples, Italy.
Francesco
F
Raimondi
exocrine pancreatic dysfunction; limb shortness; neutropenia; newborn; thoracic hypoplasia