Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia

American Journal of Medical Genetics. Part a
Knut BrockmannBarbara Zoll

Abstract

The oromandibular limb hypogenesis syndromes (OLHS) represent a group of rare conditions characterized by congenital malformations involving the tongue, mandible, and limbs. There is considerable overlap between the syndromes gathered under the term OLHS, and a marked variability of face and limb anomalies as well as additional malformations. In this report we describe a girl with gastroschisis and pulmonary hypoplasia in addition to features of Moebius syndrome comprising hypoplasia of the tongue and mandible, brachydactyly of halluces, cranial nerve palsies with bilateral facial paralysis and an inability to execute horizontal eye movements. Karyotyping and array-based comparative genomic hybridization were normal. This observation confirms an overlap between Moebius syndrome and OLHS and widens the spectrum of associated malformations. Intrauterine environmental factors including vascular insufficiency, high maternal fever, and drug abuse are likely to play a crucial role in the pathogenesis of this condition.

References

Jul 1, 1978·Radiology·G F Johnson, M Robinow
Jun 1, 1977·Clinical Genetics·E TuncbilekM Atasu
Aug 1, 1976·The Journal of Pediatrics·P KaplanF C Fraser
Apr 1, 1992·Journal of Medical Genetics·A H Lipson, D D Weaver
Jul 15, 1992·American Journal of Medical Genetics·A DavidY Héloury
Jun 1, 1991·Journal of Medical Genetics·J J SleeD L Viljoen
Jul 1, 1991·Journal of Medical Genetics·Y GillerotL Koulischer
Jul 1, 1985·Plastic and Reconstructive Surgery·Z N Chicarilli, I M Polayes
Aug 1, 1968·Plastic and Reconstructive Surgery·J Spivack, J E Bennett
Sep 1, 1980·Oral Surgery, Oral Medicine, and Oral Pathology·N C NevinA M Ross
Mar 1, 1994·International Journal of Pediatric Otorhinolaryngology·B Gruber, B K Burton
Aug 15, 1993·American Journal of Medical Genetics·S St CharlesM L Grunnet
May 8, 1999·American Journal of Medical Genetics·S P Robertson, A Bankier
Aug 12, 1999·American Journal of Human Genetics·H T VerzijlH Kremer
Feb 24, 2001·Pediatrics International : Official Journal of the Japan Pediatric Society·K Maruyama, T Koizumi
Feb 27, 2001·American Journal of Medical Genetics·M L Martínez-FríasE Rodríguez-Pinilla
Jun 30, 2001·Journal of Pediatric Surgery·N KiliçH Dogruyol
Jun 1, 1959·Experimental Neurology·J B RANCK, W F WINDLE
Jun 29, 2007·The New England Journal of Medicine·Sura AlwanUNKNOWN National Birth Defects Prevention Study
Jul 26, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sonja A Rasmussen, Jaime L Frías
Feb 21, 2009·Paediatric and Perinatal Epidemiology·Anna Materna-KirylukAnna Latos-Bieleńska

❮ Previous
Next ❯

Citations

May 19, 2012·Journal of Pediatric Surgery·Javed AkhtarUNKNOWN Canadian Pediatric Surgery Network (CAPSNet)
Mar 14, 2020·The Journal of Craniofacial Surgery·Geiza MáximoCassio Eduardo Raposo-Amaral
Sep 11, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Lúcia Rosa Reis de Araújo CarvalhoMarcoeli Silva de Moura
Aug 11, 2018·Pediatric Surgery International·Victor M Salinas-TorresLaura E Martínez-de-Villarreal

❮ Previous
Next ❯

Related Concepts

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.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

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.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
Puneet WadhwaniRuchi Sahu
American Journal of Medical Genetics. Part a
Pierpaolo MastroiacovoLyubov Yevtushok
Journal of Pediatric Surgery
Basem A KhalilGraham L Lamont
Pediatrics International : Official Journal of the Japan Pediatric Society
K Maruyama, T Koizumi
© 2022 Meta ULC. All rights reserved