The deficiency in SP-B is a rare autosomal recessive condition known to be responsible for lethal neonatal respiratory distress. Rare survivals have been described in partial deficiencies [153, 154] . The SFTPC mutation I73T (c.218 T > C) is the more prevalent mutation. Others are described in only one family. The phenotype associated with SFTPC mutations is extremely heterogeneous leading from neonatal fatal respiratory failure to children and adults chronic respiratory disease with ILD [45] . Recessive mutations in the ABCA3 gene were first attributed to fatal respiratory failure in term neonates but are increasingly being recognized as a cause of ILD in older children and young adults. Over 100 ABCA3 mutations have been identified in neonates with respiratory failure and in older children with ILD [86, [155] [156] [157] [158] [159] [160] [161] . Mutations in the TTF-1 gene are associated with "brainlung-thyroid syndrome" which combines congenital hypothyroidism, neurological symptoms (hypotonia, chorea), and ILD of variable intensity [162] [163] [164] [165] [166] [167] [168] . So far, few mutations have been reported, mostly in exon 3 [169, 170] .