The de Barsy syndrome

We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typic...

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Bibliographic Details
Published inTurkish journal of pediatrics Vol. 43; no. 1; pp. 79 - 84
Main Authors Arazi, M, Kapicioğlu, M I, Mutlu, M
Format Journal Article
LanguageEnglish
Published Turkey Türk Pediatri Derneği 01.01.2001
Subjects
Abnormalities, Multiple
Abnormalities, Multiple - diagnosis
Anomaliler, çoklu
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Cutis Laxa
Cutis Laxa - diagnosis
Diagnosis, Differential
Doğumsal, kalıtsal ve yenidoğan hastalıkları ve anomaliler
Erken yaşlanma
Face
Female
Humans
Infant
Kas iskelet hastalıkları
Kutis laksa
Muscle Hypotonia - diagnosis
Musculoskeletal diseases
Musculoskeletal Diseases - diagnosis
Musculoskeletal Diseases - surgery
Progeria
Progeria - diagnosis
Sendrom
Syndrome
Süt çocuğu
Tanı, ayırıcı
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Summary:We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with eight-year follow-up beginning from birth are described and compared with previously reported cases. The main aim of this paper was to describe the diagnostic and therapeutic difficulties of this rarely encountered syndrome.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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TTIP
ISSN:0041-4301