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Journals / Ege Pediatri Bülteni / 2006 / Cilt: 13 - Sayı: 3

Two siblings with Smith-McCort syndrome: A case report

Smith-McCort sendromlu iki kardeş: Olgu sunumu

Serdar CEYLANER
Aysel YÖNEY
Candemir KARACAN
Nilgün E. ATAY
Gürkan GENÇ
Pages
177–181
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Smith-McCort syndrome is a variant of Dyggve-Melchior-Clausen syndrome without mental retardation here we report two siblings with Smith-McCort syndrome to remind this rare disorder.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Smith-McCort syndrome is a rare autosomal recessive disorder characterized by multiple osteochondrodysplasia.
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Key Findings & Data:Smith-McCort syndrome is a rare autosomal recessive disorder characterized by multiple osteochondrodysplasia.
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Conclusion & Impact:Smith-McCort syndrome is a variant of Dyggve-Melchior-Clausen syndrome without mental retardation here we report two siblings with Smith-McCort syndrome to remind this rare disorder.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Smith-McCort syndrome is a rare autosomal recessive disorder characterized by multiple osteochondrodysplasia. Smith-McCort syndrome is a variant of Dyggve-Melchior-Clausen syndrome without mental retardation here we report two siblings with Smith-McCort syndrome to remind this rare disorder.

Özet

Smith-McCort sendromu, osteokondrodisplaziler ile karakterize, otozomal resesif kalıtılan nadir bir sendromdur. Fenotipik özellikleri benzer olmalarına karşın mental retardasyonun eşlik etmemesi ile Dyggve-Melchior-Clausen sendromunun bir varyantı olarak kabul edilmektedir. Bu makalede Smith-McCort sendromu tanısı almış iki kardeş nadir görülen bu sendromun hatırlatılması amacı ile sunulmuştur.

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Cite This Article

CEYLANER, S., YÖNEY, A., KARACAN, C., ATAY, N. E., GENÇ, G. (2022). Two siblings with Smith-McCort syndrome: A case report. Ege Pediatri Bülteni, Cilt: 13 - Sayı: 3, 177–181. https://ajindex.com/articles/495729

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References (9)

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