A rare form of Campomelic dysplasia: Case report

Objective & Hypothesis:Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SOX9 gene on 17q(24.3-q25.1).

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Key Findings & Data:A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the SOX9 gene.

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Conclusion & Impact:Here, we report a 2 - month - old infant who manifested the milder characteristic clinical and radiological findings of campomelic dysplasia.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Campomelic dysplasia (CD) is a rare skeletal malformation syndrome caused by mutations in the SOX9 gene on 17q(24.3-q25.1). It is characterised by fetal loss in bone maturation, macrocephaly, micrognathia, prominent forehead, cleft palate, malformed and small ears, sharp angulation of the tibiae, chest deformations, gonadal dysgenesis and ambigius genitalia. These children usully die in neonatal period as a result of pulmoner complications. A small proportion of cases are associated with structural rearrangements involving 17q and it has been proposed that this subgroup have a milder phenotype and better prognosis compared to those with mutations in the SOX9 gene. Here, we report a 2 - month - old infant who manifested the milder characteristic clinical and radiological findings of campomelic dysplasia.

Özet

Campomelic Dysplasia (CD) kemik maturasyonundaki gerilikle prenatal başlayan büyüme geriliği, büyük baş çevresi, belirgin alınla birlikte geniş ve küçük yüz, çökük burun kökü, mikrognati, yarık damak, malforme ve küçük kulaklar, özellikle tibiada belirgin olmak üzere ekstremitelerde öne doğru açılanma, göğüs deformitesi ve gonadal disgenesis ve ambigius genitalya ile karakterize olan; SOX9 genindeki mutasyonlarla otozomal dominant, otozomal resesif ve sporadik olarak ortaya çıkan bir sendromdur. Hastaların büyük kısmı özellikle solunum yetmezliği nedeniyle neonatal periyotta ölmektedir, fakat olguların çok küçük bir kısmında klasik 17q (q24.3- q25.1) mutasyonundan farklı bir yapılanma olmaktadır. Bu hastalar daha hafif bir fenotipe sahip olmaktadır ve literatürde yaşayan CD'li birkaç hastanın bu farklı mutasyona sahip olduğu bildirilmiştir. Olgumuz campomelic dysplasia sendromuna uymakla birlikte genel durumunun iyi olması ve fenotipik özelliklerinin daha hafif olması nedeniyle yukarıda bahsedilen farklı mutasyonlardan biri olabileceği düşünüldü.

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Cite This Article

ÖZTÜRK, A., KESEN, M., ŞERMATOV, K., KARAZEYBEK, H., ÖZTÜRK, E., ZEYREK, C. D. (2022). A rare form of Campomelic dysplasia: Case report. Anadolu Tıp Dergisi, Cilt: 5 - Sayı: 2, 119–122. https://ajindex.com/articles/438124

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