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Opitz trigonocephaly syndrome: Report of two cases


Flatz, S D; Schinzel, Albert; Doehring, E; Kamran, D; Eilers, E (1984). Opitz trigonocephaly syndrome: Report of two cases. European Journal of Pediatrics, 141(3):183-185.

Abstract

We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.

Abstract

We report two patients with Opitz trigonocephaly syndrome. Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad alveolar ridges, small chin, short neck with loose skin, muscular hypotonia and cardiac defect. An 8-week-old girl had multiple gingival frenula, brachydactyly, syndactyly of toes and anal stenosis in addition, while a boy who died at 28 h from cardiac failure showed multiple joint contractures, cryptorchidism and renal cortical cysts.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Uncontrolled Keywords:Pediatrics, Perinatology and Child Health, Genetics, Genetics (clinical), C syndrome Malformation, multiple congenital, Trigonocephaly syndrome
Scope:Contributions to practice (applied research)
Language:English
Date:January 1984
Deposited On:04 Apr 2024 11:21
Last Modified:05 Apr 2024 20:00
Publisher:Springer
ISSN:0340-6199
OA Status:Closed
Free access at:Official URL. An embargo period may apply.
Publisher DOI:https://doi.org/10.1007/bf00443223
Official URL:https://rdcu.be/dB7gf
PubMed ID:6698065
Other Identification Number:Corpus ID: 8158567