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
. 2002 Jul;22(7):567-8.
doi: 10.1002/pd.369.

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome

Marie Soulier  1 , Sabine Sigaudy, Cécile Chau, Nicole Philip
Affiliations
Case Reports

Prenatal diagnosis of Pierre-Robin sequence as part of Stickler syndrome

Marie Soulier et al. Prenat Diagn. 2002 Jul.

Abstract

Stickler syndrome or hereditary progressive arthro-ophthalmopathy, is an autosomal dominant condition characterized by ocular manifestations, arthritic changes, orofacial features and deafness, in variable degrees.We report the first case of prenatal diagnosis of Stickler syndrome in a child with a Pierre-Robin sequence (PRS) causing a polyhydramnios. When isolated polyhydramnios is not explained by immunological, metabolic or infectious causes, swallowing difficulty due to PRS must be considered. As PRS is aetiologically heterogeneous, the prognosis depends on the cause. Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types

MeSH terms

LinkOut - more resources