T

 

Temtamy Sendromu (preaksiyal brakidaktili)

Kalıtsal - AR

Gelişme geriliği

Yüz uzun

Alın belirgin

Hipertelorizm

Kaşlar belirgin

Miyopi

İris anomalisi

Gözler çekik

Kulaklar aşağıda

Gagamsı burun

Uzun filtrum

Mikrognati

Maloklüzyon

Dişlerde hipoplazi

Kalça çıkığı

Parmak anomalileri (preaksiyal brakidaktili)

Zeka geriliği

Beyin anomalileri

Epilepsi

Otizm

 

  • Temtamy SA, Salam MA, Aboul-Ezz EHA, ET AL. New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia. Clinical Dysmorphology, 5: 231-240, 1996

  • Akizu N, Shembesh NM, Ben-Omran T, et al. Whole-exome sequencing identifies mutated C12orf57 in recessive corpus callosum hypoplasia. American Journal of Human Genetics, 92: 392-400, 2013

  • Platzer K, Huning I, Obieglo Cet al. Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. American Journal of Medical Genetics, 164A: 1976-1980, 2014