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Limb pterygium syndromes: a review and report of eleven patients.
Am J Med Genet. 1982 Aug; 12(4):377-409.AJ

Abstract

Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7124793

Citation

Hall, J G., et al. "Limb Pterygium Syndromes: a Review and Report of Eleven Patients." American Journal of Medical Genetics, vol. 12, no. 4, 1982, pp. 377-409.
Hall JG, Reed SD, Rosenbaum KN, et al. Limb pterygium syndromes: a review and report of eleven patients. Am J Med Genet. 1982;12(4):377-409.
Hall, J. G., Reed, S. D., Rosenbaum, K. N., Gershanik, J., Chen, H., & Wilson, K. M. (1982). Limb pterygium syndromes: a review and report of eleven patients. American Journal of Medical Genetics, 12(4), 377-409.
Hall JG, et al. Limb Pterygium Syndromes: a Review and Report of Eleven Patients. Am J Med Genet. 1982;12(4):377-409. PubMed PMID: 7124793.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Limb pterygium syndromes: a review and report of eleven patients. AU - Hall,J G, AU - Reed,S D, AU - Rosenbaum,K N, AU - Gershanik,J, AU - Chen,H, AU - Wilson,K M, PY - 1982/8/1/pubmed PY - 1982/8/1/medline PY - 1982/8/1/entrez SP - 377 EP - 409 JF - American journal of medical genetics JO - Am J Med Genet VL - 12 IS - 4 N2 - Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (Patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7124793/Limb_pterygium_syndromes:_a_review_and_report_of_eleven_patients_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1982&volume=12&issue=4&spage=377 DB - PRIME DP - Unbound Medicine ER -