Prenatal diagnosis of ROR‐2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities

Autosomal recessive ROR2‐Robinow syndrome is caused by pathogenic variants in the ROR2 gene. Fetal ultrasound done on our patient at 24 + 3/7 weeks gestation showed macrocephaly, brachycephaly, flat face, prominent forehead, mild frontal bossing, lower thoracic hemivertebrae, digital abnormalities a...

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Veröffentlicht in:	Prenatal diagnosis 2024-05, Vol.44 (5), p.653-656
Hauptverfasser:	Yang, Liying, Shannon, Patrick, Silver, Rachel, Roifman, Maian, Yates, Carin, Chitayat, David
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Adult Autopsies Autopsy Craniofacial Abnormalities - diagnostic imaging Craniofacial Abnormalities - genetics Dwarfism Exome Sequencing Female Fetuses Fingers - abnormalities Fingers - diagnostic imaging Forehead Humans Limb Deformities, Congenital - diagnostic imaging Limb Deformities, Congenital - genetics Male Pregnancy Prenatal diagnosis Proteins Receptor Tyrosine Kinase-like Orphan Receptors - genetics Spine - abnormalities Spine - diagnostic imaging Symphalangia Thorax Ultrasonic imaging Ultrasonography, Prenatal Ultrasound Urogenital Abnormalities Vertebrae
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