{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T13:48:51Z","timestamp":1778852931671,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2012,8,7]],"date-time":"2012-08-07T00:00:00Z","timestamp":1344297600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achondroplasia and hypochondroplasia are two of the most common forms of skeletal dysplasia. They are both caused by activating mutations in <jats:italic>FGFR3<\/jats:italic> and are inherited in an autosomal dominant manner. Our patient was born to parents with presumed achondroplasia, and found on prenatal testing to have p.G380R and p.N540K <jats:italic>FGFR3<\/jats:italic> mutations. In addition to having typical problems associated with both achondroplasia and hypochondroplasia, our patient had several atypical findings including: abnormal lobulation of the lungs with respiratory insufficiency, C1 stenosis, and hypoglycemia following a Nissen fundoplication. After his reflux and aspiration were treated, the persistence of the tachypnea and increased respiratory effort indicated this was not the primary source of the respiratory distress. Our subsequent hypothesis was that primary restrictive lung disease was the cause of his respiratory distress. A closer examination of his chest circumference did not support this conclusion either. Following his death, an autopsy found the right lung had 2 lobes while the left lung had 3 lobes. A literature review demonstrates that other children with achondroplasia\u2010hypochondroplasia complex have been described with abnormal pulmonary function and infants with thanatophoric dysplasia have similar abnormal pulmonary anatomy. We hypothesize that there may be a primary pulmonary phenotype associated with FGFR3\u2010opathies, unrelated to chest size which leads to the consistent finding of increased respiratory signs and symptoms in these children. Further observation of respiratory status, combined with the macroscopic and microscopic analysis of pulmonary branching anatomy and alveolar structure in this patient population will be important to explore this hypothesis. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35530","type":"journal-article","created":{"date-parts":[[2012,8,7]],"date-time":"2012-08-07T17:01:30Z","timestamp":1344358890000},"page":"2336-2341","source":"Crossref","is-referenced-by-count":12,"title":["Achondroplasia\u2010hypochondroplasia complex and abnormal pulmonary anatomy"],"prefix":"10.1002","volume":"158A","author":[{"given":"Michael B.","family":"Bober","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Heinle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Mackenzie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,8,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990611)84:5<401::AID-AJMG3>3.0.CO;2-C"},{"key":"e_1_2_5_3_1","first-page":"505","article-title":"Pathomorphological findings of a prenatally diagnosed thanatophoric dwarf","volume":"104","author":"Cs\u00e9csei K","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_5_4_1","first-page":"1066","article-title":"Thanatophoric dwarfism. 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