genetik mi?
Merhaba, 3 ay 1 haftalik kiz bebegim var. Dogdugundan beri burnunun ucunda dikine inen kirmizi bir cizgi var. Bu cizgi buyudukce burun kikirdaklari ikiye ayrilmis goruntusune donustu. Bazen daha belirgin oluyor, bazen sadece yakindan gorunuyor. Ayni zamanda alnindaki tuyler de dokulmedi ve kivrilarak alni boyunca mevcut. Turk kaynaklarda hicbir benzer durum okumadim. Fakat yabanci bazi kaynaklarda mota syndrome diye bir hastaligin birkac belirtisi bu yazdiklarim. Merak ettigim sey bu durum genetik midir? Endiselenmek gerekir mi? Alakasi var mi bilmiyorum ama 5.haftaya kadar tsh hormonu yuksekligi vardi. 6.haftada duzeldi. Gelisimi normalden daha hizli. Tesekkurler.
Sizin bebeğinizin bu sendrom tanısında olmadığını düşünmekle beraber, merak ettikleriniz ile ilgili yanıt aşağıdaki gibidir: Disease characteristics. Manitoba oculotrichoanal (MOTA) syndrome is characterized by an aberrant hairline (unilateral or bilateral wedge-shaped extension of the anterior hairline from the temple region to the ipsilateral eye) and anomalies of the eyes (ocular hypertelorism, anophthalmia/microphthalmia, cryptophthalmos, colobomas of the upper eyelid and corneopalpebral synechiae), nose (bifid or wide with a notched tip), abdominal wall (omphalocele or umbilical hernia), and anus (stenosis and/or anterior displacement of the anal opening). The manifestations and degree of severity vary even among affected members of the same family. Growth and psychomotor development are normal. Diagnosis/testing. Diagnosis is based on clinical findings and family history, and in many cases ethnicity is taken into account. FREM1 is the only gene in which mutations are known to cause MOTA syndrome. Management. Treatment of manifestations: Treatment consists primarily of surgical repair as needed, including closure of an omphalocele, dilatation for anal stenosis, release of synechiae between the eyelid and cornea, and craniofacial surgery for bifid nose. Supportive care is required for those with visual impairment.
