Multiple pterygium syndrome
- PMID: 655146
- DOI: 10.1001/archpedi.1978.02120310073016
Multiple pterygium syndrome
Abstract
After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia in the neck, axilla, antecubital, and even popliteal areas; evidence supports autosomal recessive inheritance for this syndrome.
Similar articles
-
Multiple pterygium syndrome.J Med Genet. 1981 Dec;18(6):451-5. doi: 10.1136/jmg.18.6.451. J Med Genet. 1981. PMID: 7334504 Free PMC article.
-
Multiple pterygium syndrome (Escobar syndrome)--a case report.Singapore Med J. 1994 Apr;35(2):208-10. Singapore Med J. 1994. PMID: 7939824
-
Multiple pterygium syndrome.Am J Med Genet. 1980;7(2):91-102. doi: 10.1002/ajmg.1320070203. Am J Med Genet. 1980. PMID: 7468651
-
The lethal multiple pterygium syndrome: a nosological approach.Genet Couns. 1990;1(1):13-23. Genet Couns. 1990. PMID: 2222917 Review.
-
[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)].Schweiz Med Wochenschr. 1998 May 23;128(21):817-23. Schweiz Med Wochenschr. 1998. PMID: 9642748 Review. German.
Cited by
-
Multiple pterygium syndrome: evolution of the phenotype.J Med Genet. 1987 Dec;24(12):733-49. doi: 10.1136/jmg.24.12.733. J Med Genet. 1987. PMID: 3430553 Free PMC article.
-
Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.Mol Genet Genomic Med. 2017 Jul 16;5(4):307-316. doi: 10.1002/mgg3.318. eCollection 2017 Jul. Mol Genet Genomic Med. 2017. PMID: 28717657 Free PMC article.
-
A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype.J Pediatr Genet. 2020 Aug 26;11(2):144-146. doi: 10.1055/s-0040-1715640. eCollection 2022 Jun. J Pediatr Genet. 2020. PMID: 35769964 Free PMC article.
-
Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings.Eur J Pediatr. 2014 Oct;173(10):1377-80. doi: 10.1007/s00431-014-2324-4. Epub 2014 May 3. Eur J Pediatr. 2014. PMID: 24791932
-
The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle.Front Mol Neurosci. 2020 Sep 8;13:581097. doi: 10.3389/fnmol.2020.581097. eCollection 2020. Front Mol Neurosci. 2020. PMID: 33013323 Free PMC article. Review.