Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome: Case report

Abstract

Introduction: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by a wide range of dysmorphic features, including microcephaly, progressive neurologic disorder, optic atrophy, mental retardation, progressive joint contractures and growth failure.

Case: The case was two-week-old male infant whose father (29 years old) and mother (25 years old) were non-consanguineous. The present patient had growth deficiency, microcephaly, deep-set small eyes, a prominent beaked nose, micrognathia, micropenis, joint contractures, kyphoscoliosis, short legs, and rocker-bottom feet. A brain magnetic resonance graphy demonstrated cerebral atrophy and hypoplasia of the corpus callosum. The patient was hospitalized at neonatal intensive care unit. However, he died at age 2 weeks.

Conclusion: Here in, we report a rare patient with the features of COFS. 

Keywords

• Cerebro-oculo-facio-skeletal syndorme
• microcephaly
• progressive joint contractures

Serebro-okülo-fasio-iskeletal sendrom: Olgu Sunumu

Öz

Giriş: Serebro-okülo-fasio-iskeletal sendrom, mikrosefali, ilerleyici nörolojik bozukluk, optik atrofi, mental gerilik, ilerleyici eklem kontraktürleri, ve büyüme geriliğini içeren çok çeşitli dismorfik özellikler ile karakterize nadir bir otozomal resesif bozukluktur.

Olgu: Olgu iki haftalık erkek bebek idi, 29 yaşındaki babası ve 25 yaşındaki annesi akraba değildi. Hastamız büyüme geriliğine, mikrosefaliye, derinde olan küçük gözlere, çıkıntılı bir gaga buruna, küçük ağıza, mikropenise, eklem kontraktürlerine, kifoskolyoza, kısa bacaklara ve fırlak topuğa sahipti. Beyin magnetik rezonans grafisi serebral atrofi ve korpus kallosum hipoplazisi gösterdi. Hasta yenidoğan yoğun bakım ünitesine yatırıldı. Ancak hasta iki haftalık iken öldü.

Sonuç: Burada, biz COFS sendromu özellikleri ile nadir bir hastayı rapor ettik.

Anahtar Kelimeler

• Serebro-okülo-fasio-iskeletal sendrom
• mikrosefali
• ilerleyici eklem kontraktürleri

Kaynakça

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