The Freeman-Sheldon syndrome (Whistling face)

Year 2005, Volume: 36 Issue: 4, 189 - 193, 01.05.2005

Emel Altuncu Sultan Kavuncuoğlu Neslihan Melikoğlu Sinem Oral Esin Yıldız Aldemir Sibel Özbek

Abstract

The Freeman- Sheldon Syndrome is a rare hereditary disorder that was described by these authors in 1938 under the name of "craniocarpotarsal dystrophia". The appearance of the face is the most stricking feature and the characteristics include microstomia with puckered lips, which gives the person a whistling appearance, long philtrum, flat face, contracted joints of fingers and ulnar deviation. Respiratory and swallowing problems are frequently encountered in these patients. This article describes a case of Freeman Sheldon syndrome with a 2400g birth weight and 37 weeks of gestation. The infant manifested the typical dysmorphic features of this syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. Additionally, she had bilateral congenital hip dislocation and atrial septal defect.

Keywords

Trismus, Neuromuscular Manifestations, Infant, Newborn

Freeman-Sheldon sendromu (Islık çalan yüz)

Abstract

Freeman-Sheldon Sendromu (Islık çalan yüz), 1938 yılında kranio-karpotarsal distrofi adı altında sendroma adını veren yazarlarca tanımlanan nadir herediter bir hastalıktır. Başlıca özellikleri, yüze ıslık çalma görünümü veren büzülmüş ağız, uzun filtrum, düz bir yüz, el ve ayak parmaklarında fleksiyon ve ulnar deviasyondur. Solunum ve yutma problemleri en sık karşılaşılan sorunlardır. Bu sunumda, 2400g ağırlığında, 37 gestasyon haftasında ikiz eşi olarak doğan, solunum sıkıntısı nedeniyle servise yatırılan ve Freeman-Sheldon Sendromu tanısı konulan bir hasta sunuldu. Hastada, sendromun başlıca bulgularının yanında bilateral doğumsal kalça displazisi ve atrial septal defekt saptandı. Neonatal trismus olgularında akla gelmesi ve nadir bir sendrom olması nedeniyle sunulmaya değer bulundu.

Keywords

Trismus, Nöromusküler belirtiler, Süt çocuğu, yenidoğan

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