Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2

J Obstet Gynaecol Can. 2023 Aug;45(8):558-559. doi: 10.1016/j.jogc.2023.05.004. Epub 2023 May 17.

Authors

Daniele Guadagnolo¹, Gioia Mastromoro², Nader Khaleghi Hashemian², Valeria Orlando³, Francesca Romana Lepri³, Elena D'Alberti⁴, Antonella Giancotti⁴, Antonio Novelli³, Antonio Pizzuti²

Affiliations

¹ Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy. Electronic address: [email protected].
² Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
³ Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
⁴ Department of Maternal, Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.

PMID: 37201580
DOI: 10.1016/j.jogc.2023.05.004

No abstract available

Keywords: exome sequencing; fetal cystic hygroma; prenatal diagnosis.

Publication types

Letter

MeSH terms

Carrier Proteins
Female
Fractures, Bone*
Humans
Hydrops Fetalis
Lymphangioma, Cystic* / diagnostic imaging
Muscular Atrophy, Spinal*
Pregnancy
Pregnancy Trimester, First
Ultrasonography, Prenatal

Substances

ASCC1 protein, human
Carrier Proteins

Supplementary concepts

Nuchal bleb, familial