Thanatophoric dyspalsia: Case report Tanatofori̇k di̇splazi̇
SENDROM, cilt.23, sa.4-6, ss.49-50, 2011 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 23 Sayı: 4-6
- Basım Tarihi: 2011
- Dergi Adı: SENDROM
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.49-50
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Thanatophoric dysplasia is the most common (I in 16000 births) of the lethal dwarfism conditions. Clinical features are often confused with homozygous achondroplasia. The height is about 40 cm, head is large with flat nasal bridge, a small face and short limbs. These patients die shortly after birth due to narrow thorax and pulmonaiy hypoplasia. In this article, a rare case report of newborn with thanatophoric dysplasia is presented.