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- Title
Case Report: Schinzel Giedion Syndrome.
- Authors
Kyaw, W.; Noh, G.; Truong, H.
- Abstract
The article presents a case study of a 4-day old infant who was born via Cesarean section for fetal distress and was noted to have multiple congenital abnormalities, including large posterior fontanel, penoscrotal hypospadias, and bilateral cryptorchidism. The patient was diagnosed with Schinzel-Giedion syndrome, confirmed through direct sequencing of the SETB1 gene, and died at age six months from respiratory complications secondary to pneumonia. The article discussed Schinzel-Giedon syndrome.
- Subjects
SCHINZEL-Giedion syndrome; CRANIOFACIAL abnormalities; HUMAN abnormalities; NEWBORN infants; NUCLEOTIDE sequencing
- Publication
Neonatology Today, 2018, Vol 13, Issue 10, p14
- ISSN
1932-7129
- Publication type
Case Study