A case report: Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation
Clinical Genetics, cilt.49, sa.4, ss.220-222, 1996 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 49 Sayı: 4
- Basım Tarihi: 1996
- Doi Numarası: 10.1111/j.1399-0004.1996.tb03291.x
- Dergi Adı: Clinical Genetics
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.220-222
- Anahtar Kelimeler: Cleft lip, Cleft palate, Corpus callosum dysgenesis, Exophthalmos, Infantile spasm
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
In this report, a case with corpus callosum dysgenesis, infantile spasm, microcephaly, psychomotor retardation, exophthalmos, cleft lip-palate and abnormal EEG findings is presented. His parents are first-degree relatives. We could not fully match the findings of our patient with the criteria of any syndrome published to date.