Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B ” mimicking Escobar variant multiple pterygium syndrome

2020 ◽  
Vol 182 (11) ◽  
pp. 2605-2610
Author(s):  
Anna H. Hakonen ◽  
Johanna Lehtonen ◽  
Sirpa Kivirikko ◽  
Riikka Keski‐Filppula ◽  
Jukka Moilanen ◽  
...  
Keyword(s):  
Multiple Pterygium Syndrome

Lethal multiple pterygium syndrome: antenatal ultrasonographic diagnosis.

2000 ◽  
Vol 19 (9) ◽  
pp. 657-660 ◽  
Author(s):  
B S Hertzberg ◽  
M A Kliewer ◽  
K Paulyson-Nunez
Keyword(s):  
Ultrasonographic Diagnosis ◽  
Multiple Pterygium Syndrome

Perinatal Manifestations of Maternal Yellow Nail Syndrome

PEDIATRICS ◽  
1992 ◽  
Vol 89 (6) ◽  
pp. 1016-1018
Author(s):  
Paul Govaert ◽  
Jules G. Leroy ◽  
Romain Pauwels ◽  
Piet Vanhaesebrouck ◽  
Claudine De Praeter ◽  
...  
Keyword(s):  
Clinical Findings ◽  
Neurological Development ◽  
Fetal Hydrops ◽  
Nail Dystrophy ◽  
Chromosomal Disorders ◽  
Yellow Nail Syndrome ◽  
Nail Changes ◽  
Pulmonary Lymphangiectasis ◽  
Multiple Pterygium Syndrome ◽  
Dystrophic Nail

A term female firstborn infant had unexplained nonimmune fetal hydrops and recurrent left chylothorax at 4 weeks of age. A few months before conception, her mother had had acute dystrophic nail changes and is being treated for recurrent sinusitis, bronchiectasis, and a deficiency of serum IgG2. We suggest that they both suffer from a dominantly inherited congenital lymphedema syndrome known as `yellow nail dystrophy.' Prenatal manifestation of this disorder has not been reported previously. The child's anthropometric and neurological development was normal at 1 year of age, whereas mild ankle edema and marbling of the skin of the limbs were salient clinical findings. Inherited lymphedema leading to nonimmune fetal hydrops also has been recognized in chromosomal disorders, Noonan's syndrome, multiple pterygium syndrome, pulmonary lymphangiectasis, and mixed-vessel lymphatic dysfunction. Indicators of parental lymphedema are not on record in those instances.

The Anesthetic Management of Patients with Multiple Pterygium Syndrome

1996 ◽  
Vol 83 (2) ◽  
pp. 430-432 ◽  
Author(s):  
Paul J. Kuzma ◽  
Mark D. Calkins ◽  
Mark D. Kline ◽  
Steven M. Karan ◽  
Michael D. Matson
Keyword(s):  
Anesthetic Management ◽  
Multiple Pterygium Syndrome

scholarly journals Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

2008 ◽  
Vol 82 (1) ◽  
pp. 222-227 ◽  
Author(s):  
Julie Vogt ◽  
Benjamin J. Harrison ◽  
Hayley Spearman ◽  
Judy Cossins ◽  
Sascha Vermeer ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Multiple Pterygium Syndrome

First Trimester Ultrasound Diagnosis of Lethal Multiple Pterygium Syndrome

2006 ◽  
Vol 21 (5) ◽  
pp. 466-470 ◽  
Author(s):  
Munire Gundogan ◽  
Katherine Fong ◽  
Sarah Keating ◽  
Jacqueline Pierre-Louis ◽  
David Chitayat
Keyword(s):  
First Trimester ◽  
Ultrasound Diagnosis ◽  
Multiple Pterygium Syndrome ◽  
First Trimester Ultrasound
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