{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T05:18:35Z","timestamp":1770355115481,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To explore the intrauterine phenotypic spectrum of short stature homeobox\u2010containing (<jats:italic>SHOX<\/jats:italic>) gene\u2010associated skeletal dysplasia and provide genetic counseling at\u2010risk pregnancies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We analyzed the fetuses with <jats:italic>SHOX<\/jats:italic>\u2010microdeletions identified by single nucleotide polymorphism (SNP)\u2010array. The intrauterine phenotypes and outcomes were further elaborated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nine fetuses carrying a single <jats:italic>SHOX<\/jats:italic>\u2010microdeletion were reported, with deletion sizes ranging from 0.134 to 1.35 Mb. Shortened long bones were observed in all fetuses, varying from \u22122.0 standard deviation (SD) to \u22125.3 SD. Moreover, all cases had a femur length\/foot ratio less than 0.87 and a femur\/abdominal circumference ratio greater than 0.16, suggesting that non\u2010lethal skeletal dysplasia may be involved. Two fetuses showed intrauterine growth restriction, and two had nasal bone hypoplasia. Prenatal ultrasonography did not reveal other obvious anomalies, including the Madelung deformity. Five microdeletions were inherited and one was de novo. Five terminations and four newborns were recorded. Two newborns had normal stature, and two were short\u2010statured (height &lt;3rd percentile), with one having inflexible wrists.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>SHOX<\/jats:italic> haploinsufficiency may manifest with shortened fetal long bones. The combination of history taking, prenatal ultrasonography, and SNP\u2010array can prompt early prenatal diagnosis and timely postnatal treatment of <jats:italic>SHOX<\/jats:italic>\u2010associated skeletal dysplasia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6417","type":"journal-article","created":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T11:34:48Z","timestamp":1690889688000},"page":"1355-1365","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Shortened fetal long bones: A notable intrauterine phenotypic feature in <i>SHOX<\/i>\u2010associated skeletal dysplasia"],"prefix":"10.1002","volume":"43","author":[{"given":"Rong","family":"Hu","sequence":"first","affiliation":[{"name":"Medical Genetic Center Guangdong Women and Children Hospital  Guangzhou China"},{"name":"Maternal and Children Metabolic\u2010Genetic Key Laboratory Guangdong Women and Children Hospital  Guangzhou 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Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaping","family":"Hou","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Guangdong Women and Children Hospital  Guangzhou China"},{"name":"Maternal and Children Metabolic\u2010Genetic Key Laboratory Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunan","family":"Wang","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Guangdong Women and Children Hospital  Guangzhou China"},{"name":"Maternal and Children Metabolic\u2010Genetic Key Laboratory Guangdong Women and Children Hospital  Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8796-4088","authenticated-orcid":false,"given":"Jian","family":"Lu","sequence":"additional","affiliation":[{"name":"Medical Genetic Center Guangdong Women and Children Hospital  Guangzhou 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