Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome

American Journal of Medical Genetics
C A StevensJ C Carey

Abstract

We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.

References

May 1, 1979·The Journal of Laryngology and Otology·S Kapoor
Apr 1, 1979·American Journal of Ophthalmology·R O HowardS Rothman
Jan 1, 1977·Annual Review of Physiology·L B Strang
Mar 1, 1975·American Journal of Ophthalmology·G O Waring, J A Shields
Jul 1, 1975·American Journal of Ophthalmology·Y Goldhammer, J L Smith
Sep 1, 1977·Journal of Maxillofacial Surgery·W G Momma, B Biermann
Mar 1, 1979·Early Human Development·J S Wigglesworth, R Desai
Oct 1, 1977·Developmental Medicine and Child Neurology·G T McCarthy, C M West
Nov 1, 1990·Clinical Radiology·P Woodhead, C Hall
Dec 1, 1990·American Journal of Medical Genetics·G M SchauerA S Knisely
Aug 1, 1990·American Journal of Medical Genetics·C FrancannetJ M Robert
Apr 1, 1989·American Journal of Medical Genetics·F ServilleB Broussin
Nov 1, 1987·Ophthalmic Paediatrics and Genetics·J Pe'erI Hemo
Sep 1, 1988·American Journal of Medical Genetics·P A BoydR H Lindenbaum
May 1, 1986·The British Journal of Ophthalmology·D J BrazierJ R Collin
Jan 1, 1986·The British Journal of Ophthalmology·H C Zhang
May 1, 1986·Clinical Genetics·R Koenig, J Spranger
Sep 1, 1986·American Journal of Medical Genetics·I T ThomasM C Jones
Sep 1, 1987·Journal of Medical Genetics·J GattusoM Baraitser
Mar 1, 1988·Ophthalmic Paediatrics and Genetics·S GhoseY Dayal
Jul 1, 1988·American Journal of Medical Genetics·M G Bialer, W G Wilson
Jan 1, 1988·Human Pathology·M M SilverJ E Patrick
Nov 1, 1986·Archives of Ophthalmology·J Pe'er, D BenEzra
Feb 1, 1985·Journal of Medical Genetics·G MortimerJ R Yates
Nov 1, 1968·American Journal of Ophthalmology·H S Sugar
May 1, 1969·Archives of Ophthalmology·C H Ide, P B Wollschlaeger
Dec 1, 1973·Journal of Medical Genetics·E S AzevêdoL M Ramalho
Jan 1, 1980·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·D R Barry, W R Shortland-Webb
Jun 1, 1981·American Journal of Ophthalmology·F CodèreM F Chen
Jun 1, 1984·Clinical Genetics·I W Lurie, E D Cherstvoy
Aug 1, 1984·AJR. American Journal of Roentgenology·R S LevineL T Bilaniuk
Oct 1, 1982·Journal of Medical Genetics·J Burn, R P Marwood
Aug 1, 1981·Archives of Disease in Childhood·J S Wigglesworth, R Desai
Apr 18, 1959·Nature·B TOWERS
Oct 1, 1963·The Journal of Pediatrics·F H ADAMS, T FUJIWARA
Dec 1, 1964·Archives of Disease in Childhood·H FOX, J COCKER
Jun 1, 1965·The Annals of Otology, Rhinology, and Laryngology·I I SMITH, A D BAIN
Mar 1, 1962·Ceskoslovenská oftalmologie·J OTRADOVEC, M JANOVSKY
Oct 1, 1962·The British Journal of Ophthalmology·S P Gupta, R C Saxena
Jun 1, 1947·The Journal of Heredity·L M ASHLEY

Citations

Sep 5, 2002·Prenatal Diagnosis·Thierry RousseauPaul Sagot
Mar 6, 2004·Seminars in Neonatology : SN·Tina VanderheydenNicholas M Fisk
Aug 8, 2001·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·C BergU Gembruch
Jul 18, 2008·Prenatal Diagnosis·Jane HurstLyn S Chitty
Nov 20, 2016·Prenatal Diagnosis·Aude TessierAnne-Marie Guerrot
May 24, 2005·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·S B VijayaraghavanK Kamakshi
Dec 14, 2006·American Journal of Medical Genetics. Part a·Denise Pontes CavalcantiMartin Zenker
Jan 7, 2006·Fetal and Pediatric Pathology·Jessica M ComstockJuliana Szakacs

Related Concepts

Multiple Congenital Anomalies
Anophthalmos
Family Health Status
Hyperplasia
Kidney
Acquired Laryngeal Stenosis
Lung

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Alzheimer's Disease: MS4A

Variants within the membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease in genome-wide association studies. Here is the latest research on Alzheimer's disease and MS4A.

Pediculosis pubis

Pediculosis pubis is a disease caused by a parasitic insect known as Pthirus pubis, which infests human pubic hair, as well as other areas with hair including eye lashes. Here is the latest research.

Rh Isoimmunization

Rh isoimmunization is a potentially preventable condition that occasionally is associated with significant perinatal morbidity or mortality. Discover the latest research on Rh Isoimmunization here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells. It also follows CRISPR-Cas9 approaches to generating genetic mutants as a means of understanding the effect of genetics on phenotype.

Enzyme Evolution

This feed focuses on molecular models of enzyme evolution and new approaches (such as adaptive laboratory evolution) to metabolic engineering of microorganisms. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Pharmacology of Proteinopathies

This feed focuses on the pharmacology of proteinopathies - diseases in which proteins abnormally aggregate (i.e. Alzheimer’s, Parkinson’s, etc.). Discover the latest research in this field with this feed.

Alignment-free Sequence Analysis Tools

Alignment-free sequence analyses have been applied to problems ranging from whole-genome phylogeny to the classification of protein families, identification of horizontally transferred genes, and detection of recombined sequences. Here is the latest research.

Related Papers

American Journal of Medical Genetics
F ServilleB Broussin
International Journal of Pediatric Otorhinolaryngology
D E Karas, D S Respler
Pediatric Pulmonology
A LabbéG Malpuech
© 2021 Meta ULC. All rights reserved