Unusual Findings in Down's Syndrome: Hand Agenesis and Hypospadias

Assaad Kesrouani; Reem Obeid; Linda Daou; Zakhia Saliba; Fadi Sleilaty

doi:10.7759/cureus.32311

Unusual Findings in Down's Syndrome: Hand Agenesis and Hypospadias

Cureus. 2022 Dec 8;14(12):e32311. doi: 10.7759/cureus.32311. eCollection 2022 Dec.

Authors

Assaad Kesrouani¹, Reem Obeid¹, Linda Daou², Zakhia Saliba², Fadi Sleilaty³

Affiliations

¹ Obstetrics and Gynecology Department, Saint Joseph University, Beirut, LBN.
² Pediatrics Department, Saint Joseph University, Beirut, LBN.
³ Plastic and Reconstructive Surgery Department, Saint Joseph University, Beirut, LBN.

Abstract

A baby with Down syndrome presented initial findings at the first-trimester ultrasound of increased nuchal thickness and unilateral hand agenesis. During follow-up, other elements were found mainly hypospadias. This report emphasizes through prenatal and postnatal imaging the phenotypic variability of Down syndrome babies.

Keywords: down syndrome; hypospadias; limb; prenatal; ultrasound.

Publication types

Case Reports