Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jan 24;9(3):1577-1582.
doi: 10.1002/ccr3.3836. eCollection 2021 Mar.

Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report

Senai Goitom Sereke  1 , Anthony Oriekot  1 , Felix Bongomin  2   3
Affiliations
Case Reports

Overlapping holoprosencephaly-polydactyl syndrome and asphyxiating thoracic dystrophy, an incidental finding in late prenatal ultrasound: A rare case report

Senai Goitom Sereke et al. Clin Case Rep. .

Abstract

Holoprosencephaly-polydactyly syndrome and asphyxiating thoracic dystrophy rarely overlap but if they do, they have poorer prognosis. Early prenatal detection of multiple congenital anomalies plays a crucial role in the management of pregnancy.

Keywords: Jeune syndrome; alobar holoprosencephaly; polydactyl; short ribs.

PubMed Disclaimer

Conflict of interest statement

None declare.

Figures

FIGURE 1
FIGURE 1
(A, B (1,2), C, D, E and F) – prenatal ultrasound. A, Demonstrates absence of midline structures and single ventricle, head circumference (377 mm) and biparietal diameter (114 mm) below > 95th percentile for gestational age. B1, Demonstrates abdominal circumference (283 mm) which was between 10th and 50th percentile, double bubble sign, B2, Narrow chest (Chest circumference = 170 mm), short and horizontal ribs which was <5th percentile. C, Color Doppler demonstrates no flow in the remained brain parenchyma and three‐vessel cord of umbilicus. D, Demonstrates absence of nasal bone. E, Demonstrates short radius (10.7 mm) and ulna (10.3 mm) which was <5th percentile. F, Demonstrates very short femur (FL = 16.5 mm) which was <5th percentile
FIGURE 2
FIGURE 2
(A, B and C) post‐delivery images of the neonate. A phenotypically female neonate with big head, flat nose, low set ears, small chest, invariably short limbs,and polydactyly of four limbs
FIGURE 3
FIGURE 3
(A and B) postnatal radiography study. (C, D, and E) CT scan with brain window. (F and G) 3D CT bone reformat. (H) CT scan in bone window. (A and B) demonstrate short and horizontal oriented ribs, bilateral short humerus, and femur. (C, D and E) demonstrate absent midline structures with frontal lobes and occipital lobe in place. F) Demonstrates widely open cranial sutures. (G) Demonstrates short and horizontally oriented ribs. (H) demonstrates postaxial polydactyly of the Right hand (RH), Left hand (LH), Right foot (RF), and Left foot (LF)
See this image and copyright information in PMC

References

    1. DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1963;34:256‐263. - PubMed
    1. Cedrik T‐N, Maximilian M, Paul K. Holoprosencephaly overview. In: Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews®. Seattle, WA: University of Washington; 2000.
    1. Li‐Hsiung C. Alobar holoprosencephaly: report of two cases with unusual findings. Chang Gung Med J. 2003;26(9):700‐776. - PubMed
    1. Bous SM, Solomon BD, Graul‐Neumann L, Neitzel H, Hardisty EE, Muenke M. Holoprosencephaly‐polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature. Clin Dysmorphol. 2012;21(4):183‐190. - PMC - PubMed
    1. Salonen R, Herva R. Hydrolethalus syndrome. J Med Genet. 1990;27(12):756‐759. - PMC - PubMed

Publication types

LinkOut - more resources