Article
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
American journal of medical genetics - 24 Jul 1998
Gripp K W, Stolle C A, McDonald-McGinn D M, Markowitz R I, Bartlett S P, Katowitz J A, Muenke M, Zackai E H
Abstract excerpt
We present a patient with pansynostosis, hydrocephalus, seizures, extreme proptosis with luxation of the eyes out of the lids, apnea and airway obstruction, intestinal non-rotation, and severe developmental delay. His skeletal abnormalities include bilateral elbow ankylosis, radial head dislocati...
Topics
- Abnormalities, Multiple
- Acrocephalosyndactylia
- Amino Acid Substitution
- Cysteine
- Elbow
- Eye Abnormalities
- Foot Deformities, Congenital
- Hand Deformities, Congenital
- Humans
- Infant, Newborn
- Male
- Phenotype
- Point Mutation
- Polymorphism, Single-Stranded Conformational