| Limb pterygium syndromes: a review and report of eleven patients. | |
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MedLine Citation:
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PMID: 7124793 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J G Hall; S D Reed; K N Rosenbaum; J Gershanik; H Chen; K M Wilson |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 12 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1982 Aug |
Date Detail:
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Created Date: 1982-12-02 Completed Date: 1982-12-02 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 377-409 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Adult Arthrogryposis / genetics* Blepharoptosis / genetics Child Cleft Lip / genetics Cleft Palate / genetics Diseases in Twins Ectodermal Dysplasia / genetics Elbow / abnormalities Extremities Female Genes, Dominant Genes, Lethal Genes, Recessive Humans Infant, Newborn Male Skin Abnormalities* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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GM15253/GM/NIGMS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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