About this article
Article Category: Review Paper
Published Online: Jul 29, 2020
Page range: 47 - 52
DOI: https://doi.org/10.34763/jmotherandchild.2020241.1931.000004
Keywords
© 2020 Aleksandra Jezela-Stanek, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Congenital multisystem disorders manifesting with DLD
| COPA syndrome; autoimmune interstitial lung, joint, and kidney disease (AILJK) | #616414 | 1q23.2 | Autosomal dominant | DLD, haemorrhage, lymphocytic interstitial infiltration, ground-glass opacities on X-ray ( |
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| Hermansky–Pudlak syndrome ( |
#203300, #608233, #614073 | 10q24.2, 5q14.1, 22q12.1 | Autosomal recessive | Restrictive lung disease, recurrent infections, pulmonary fibrosis has been described largely in affected individuals from northwestern Puerto Rico ( |
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| Chitayat syndrome (CHYTS) | #617180 | 19q13.2 | Autosomal dominant | Respiratory distress at birth, bronchomalacia and (or) tracheomalacia, complicated by recurrent severe respiratory infections, obstructive pulmonary disease, ILD ( |
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| Dyskeratosis congenita (DKCA, DC), including Hoyeraal–Hreidarsson syndrome and Revesz syndrome | #613990, #613989, #127550, #305000 | 14q12, 5p15.33, 3q26.2, Xq28 | Autosomal dominant (TINF2, TERT, TERC); Autosomal recessive (TERT); X-linked (DKC1) | Idiopathic pulmonary fibrosis ( |
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| Brain–lung–thyroid syndrome (BLTS); choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) | #610978 | 14q13.3 | Autosomal dominant | ILD, neonatal respiratory distress, pulmonary fibrosis ( |
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| Interstitial lung and liver disease (ILLD) | #615486 | 12q13.3 | Autosomal recessive | ILD, lung fibrosis, pulmonary artery malformation ( |
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| Neurodevelopmental disorder with brain, liver and lung abnormalities (NEDBLLA); Rajab syndrome | #618007 | 2q36.1 | Autosomal recessive |
ILD (usually starts at the upper lobes), cholesterol pneumonitis ( |
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| - (reported in one patient so far) | - (reported once) | 2q36.2 | Autosomal recessive | ILD with cholesterol pneumonitis, growth delay, hypotonia, brain calcifications with cysts and liver dysfunction ( |
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| Aarskog–Scott syndrome (AAS) | #305400 | Xp11.22 | X-linked recessive | ILD reported once ( |
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| Chromosome deletion syndrome, including 14q11-q22 region | 14q11-q22 | Contiguous gene deletion | Isolated cases | Heterogeneous phenotype, depending on the size, but, mostly, on the genes located within the deleted region |