Prof. Dr. Serdar Ceylaner

Tıbbi Genetik Uzmanı

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@Doctors__squad Diphalia is not a diagnosis. This is just a symptom. The diagnosis is disorganisation like syndrome.

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Yes this girl most likely has turner but please always check Noonan syndrome if chromosome is normal or same features are present in male. Noonan is most common than Turner synd.

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

https://t.co/lArafgj74i

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@OGdukeneurosurg It is not marfan or mirror hand. This is triphalangeal thumb. It is a sign of several syndromes. LADD, holt oram , OFD and several others

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Trichoepitelioma or trichoblastoma

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Steroid sulphatase deficiency. It is not seem like I. Vulgaris

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Frontonasal dysplasia. Exactly. Nose shape is descriptive

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@OGdukeneurosurg Myotonic dystrophy

[Doç. Dr. Gülay Ceylaner @drgulayceylaner]

https://t.co/QjEJ64h3PB

[Doç. Dr. Gülay Ceylaner @drgulayceylaner]

https://t.co/ZQpjQ3ztUZ via @gebzehaber41

[Doç. Dr. Gülay Ceylaner @drgulayceylaner]

‘Mustafalar yaşasın’ https://t.co/GirUTAnPlQ

[Doç. Dr. Gülay Ceylaner @drgulayceylaner]

1-Ben bir anneyim demiştim sizlere bir yıl kadar önce. Yaşadığımız acı bir olaya dikkat çekmiştim. 24 Ocak 2023 ailecek üstümüzden bir silindir geçti. Bu silindir her gün birilerinin üstünden geçiyor. Bu silindir ne mi? Trafik terörü. +++

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima BCGitis. Immunodeficiency evaluation is needed.

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Congenital insensitivity to pain

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@OGdukeneurosurg Cutis gyrata or cutis laxa
Differential diagnosia is possible with examination and genetic tests.

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Or lamellar ichtyosis. It seems more severe than vulgaris

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Cyclopia-agnathia complex. This is not a simple cyclopia

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@IhabFathiSulima Aplasia cutis congenita- trisomy 13? Adams oliver syndrome?

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@Neuromed_ Hydrancephaly

[Prof. Dr. Serdar Ceylaner @serdarceylaner]

@DrAkhilRaghavan You forgot to add genetic causes