{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:05:11Z","timestamp":1791223511340,"version":"4.1.0"},"reference-count":3,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Due to abnormal prenatal ultrasound findings of femoral shortening and flattened facial profile, a G2P0 pregnant patient underwent an amniocentesis at 15 weeks of gestation for proband\u2010only exome sequencing. Bioinformatic filtering for genes included on the laboratory's extended skeletal dysplasia panel identified a heterozygous, likely pathogenic, frameshift variant in <jats:italic>DVL1<\/jats:italic> NM_001330311.2:c.1575_1582dup; (p.Pro528ArgfsTer149). Pathogenic variants in <jats:italic>DVL1<\/jats:italic> are associated with autosomal dominant Robinow syndrome (ADRS), a genetic disorder characterized by skeletal dysplasia with genital and craniofacial abnormalities. Prenatal ultrasound in the third trimester noted shortened long bones (first percentile for gestational age), macrocephaly with frontal bossing, short and upturned nose with a wide nasal root, triangular mouth, low pedal arches concerning for rocker\u2010bottom feet, and ambiguous genitalia. A postnatal exam by Medical Genetics confirmed the prenatal findings in addition to hypertelorism, brachydactyly with broad thumbs and halluces, clinodactyly of second fingers, rigid gums with a frontal frenulum, and a sacral dimple. This case describes a novel variant in <jats:italic>DVL1<\/jats:italic> identified in a fetus with prenatal and postnatal phenotypic features consistent with ADRS. To our knowledge, this is the first reported case of a prenatal molecular diagnosis of the dominant form of Robinow syndrome and the third case to describe prenatal ultrasound findings associated with this diagnosis.<\/jats:p>","DOI":"10.1002\/pd.6632","type":"journal-article","created":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T03:19:28Z","timestamp":1720581568000},"page":"1119-1122","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel <i>DVL1<\/i> variant"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8439-9386","authenticated-orcid":false,"given":"Carly M.","family":"Smith","sequence":"first","affiliation":[{"name":"Fetal and Pregnancy Health Program Lucile Salter Packard Children's Hospital at Stanford  Palo Alto California USA"},{"name":"Division of Medical Genetics Stanford University Department of Pediatrics  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi","family":"Guinon","sequence":"additional","affiliation":[{"name":"OB Genetics Lucile Salter Packard Children's Hospital at Stanford  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suha","family":"Bachir","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Stanford University Department of Pediatrics  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina G.","family":"Tise","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Stanford University Department of Pediatrics  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970100208"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.22103"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.015"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T03:40:12Z","timestamp":1723261212000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,9]]},"references-count":3,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1002\/pd.6632"],"URL":"https:\/\/doi.org\/10.1002\/pd.6632","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,9]]},"assertion":[{"value":"2024-05-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}