10.80001/26VC
Eric Liao
Eric
Liao
Richard Maas
Richard
Maas
FB0058_20mo male with VACTERL Kyphoscoliosis Tracheosophageal fistula,distal arthrogryposis crumpled soft ears osteopenia_Candidate Gene: FBN2
The purpose of this study is to collect, process, and study samples from individuals with known or possible genetic disease, and their family members. The study’s broad goals are to better understand the genetic causes of disease in order to improve the ability to diagnose, treat, and even prevent illness. Our goal is to obtain a genetic diagnosis for health problem(s) the proband has, so the information can be used, when appropriate, to guide medical decisions made by the affected individuals doctor.
**This is restricted-access human data.** To gain access to this data, you must first go through the [process outlined here](/odocs/data-guidelines/).
This case was brought to the attention of FaceBase from Dr. Pedro Sanchez of Children's Hospital Los Angeles.
Phenotype:
- 20 month old ex 31 week premie triplet (fraternal)
- VACTERL Kyphoscoliosis, vascular ring & aortic root z+2.5),
- Tracheosophageal fistula,
- Distal arthrogryposis
- Crumpled soft ears
- Osteopenia, mild bowing of his femurs
- Sagittal craniosynostosis
- Robin Sequence (high palate)
- Normal eye exam
- Spinal cord syrinx
- Liver enzymes (high ALT, AST nL GGT)
- Normal liver biopsy
FaceBase (www.facebase.org)
2020
Imaging assay
Imaging
Genotyping assay
Exome sequencing assay
Morphometric analysis
Dataset
Craniofacial development
Craniosafial malformation
en
Dataset
1
National Institute of Health (NIH)
5U01DE024449
FaceBase Coordinating Center