Spondylocostal dysplasia in a 7‐year‐old Sri Lankan girl causing restrictive lung disease: a case report and review of the literature

P Kamalanathan, M Fernando… - Case Reports in …, 2020 - Wiley Online Library
Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short‐
trunk short stature. It is a recessively inherited disorder, and commonly identified disease …

[PDF][PDF] ГЕНЕТИЧЕСКИЕ ФАКТОРЫ ЭТИОЛОГИИ И ПАТОГЕНЕЗА ВРОЖДЕННЫХ ДЕФОРМАЦИЙ ПОЗВОНОЧНИКА

СЕ Хальчицкий, МВ Согоян, АО Ли… - … проблемы науки и …, 2021 - researchgate.net
Обзор посвящен обобщению данных современной научной литературы о роли
генетических факторов в возникновении такой тяжелой инвалидизирующей патологии …

Jarcho–Levin Syndrome: A Rare Case of Thoracic Insufficiency Syndrome in a Newborn

N Prabhakar, B Patel - Indian Pediatrics Case Reports, 2023 - journals.lww.com
Background: Jarcho–Levin syndrome (JLS) is a rare, congenital skeletal disorder involving
the spine and the ribs, resulting in varying degrees of thoracic insufficiency, presenting at …